{"schema_version":2,"snapshot":"2026-10-21","catalogue_snapshot":"2026-10-19","description":"Gecureerde selectie; geen volledige lijst van exclusief Nijmeegse ontdekkingen. Figuurcontrole is onvolledig.","records":[{"locus":"DFNA2A","gene":"KCNQ4","group":"main","inheritance":"DFNA","contribution":"phenotyping","pmid":"9193215","doi":"10.1001/archotol.1997.01900060015002","title":"Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2.","authors":"Marres H, van Ewijk M, Huygen P, Kunst H, van Camp G, Coucke P, Willems P, Cremers C.","year":1997,"journal":"Archives of otolaryngology--head & neck surgery","volume":"123","issue":"6","pages":"573-577","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"9193215","affiliations":["Department of Otorhinolaryngology, University Hospital Nijmegen, the Netherlands.","Department of Otorhinolaryngology, University Hospital Nijmegen, the Netherlands."],"group_authors":["Huygen P","Kunst H","Cremers C"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA2A","gene":"KCNQ4","group":"main","inheritance":"DFNA","contribution":"phenotyping","pmid":"11915881","doi":"10.1177/000348940211100312","title":"Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.","authors":"De Leenheer EM, Huygen PL, Coucke PJ, Admiraal RJ, van Camp G, Cremers CW.","year":2002,"journal":"The Annals of otology, rhinology, and laryngology","volume":"111","issue":"3 Pt 1","pages":"267-274","figures":[{"pmid":"11915881","figure":"2","kind":"audiograms","description":"KCNQ4/DFNA2: individuele audiogrammen van 32 variantdragers.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1177/000348940211100312","checked_at":"2026-10-21","checked_by":"Codex"},{"pmid":"11915881","figure":"3","kind":"longitudinal","description":"KCNQ4/DFNA2: individuele longitudinale drempel-leeftijdanalyses per frequentie.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1177/000348940211100312","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"11915881","affiliations":["Department of Otorhinolaryngology, University Medical Center St Radboud Nijmegen, The Netherlands.","Department of Otorhinolaryngology, University Medical Center St Radboud Nijmegen, The Netherlands."],"group_authors":["Huygen PL","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"11915881_fig_02.png","source_url":"https://doi.org/10.1177/000348940211100312","article_url":"https://pubmed.ncbi.nlm.nih.gov/11915881/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Figuur 2 uit twee PDF-pagina’s samengevoegd; alle 32 audiogrammen behouden; grafiekinhoud ongewijzigd.","description":"KCNQ4/DFNA2: individuele audiogrammen van 32 variantdragers.","kind":"audiograms"},{"figure":"3","file":"11915881_fig_03.png","source_url":"https://doi.org/10.1177/000348940211100312","article_url":"https://pubmed.ncbi.nlm.nih.gov/11915881/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"KCNQ4/DFNA2: individuele longitudinale drempel-leeftijdanalyses per frequentie.","kind":"longitudinal"}]},{"locus":"DFNA2A","gene":"KCNQ4","group":"main","inheritance":"DFNA","contribution":"phenotyping","pmid":"21585154","doi":"10.1177/000348941112000405","title":"Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.","authors":"de Heer AM, Schraders M, Oostrik J, Hoefsloot L, Huygen PL, Cremers CW.","year":2011,"journal":"The Annals of otology, rhinology, and laryngology","volume":"120","issue":"4","pages":"243-248","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"21585154","affiliations":["Department of Otorhinolaryngology-Raboud University Nijmegen Medical Center, Clinical Neuroscience Donders Center for Brain, Cognition and Behavior, Nijmegen, The Netherlands.","Department of Otorhinolaryngology-Raboud University Nijmegen Medical Center, Clinical Neuroscience Donders Center for Brain, Cognition and Behavior, Nijmegen, The Netherlands."],"group_authors":["Schraders M","Huygen PL","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA3A","gene":"GJB2","group":"main","inheritance":"DFNA","contribution":"phenotyping","pmid":"21510145","doi":"10.1177/000348941112000308","title":"Phenotypes of two Dutch DFNA3 families with mutations in GJB2.","authors":"Weegerink NJ, Pennings RJ, Huygen PL, Hoefsloot LH, Cremers CW, Kunst HP.","year":2011,"journal":"The Annals of otology, rhinology, and laryngology","volume":"120","issue":"3","pages":"191-197","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"21510145","affiliations":["Department of Otorhinolaryngology, Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands."],"group_authors":["Pennings RJ","Huygen PL","Cremers CW","Kunst HP"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA5","gene":"GSDME","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"14676472","doi":"10.1159/000074185","title":"A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.","authors":"Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H.","year":2004,"journal":"Audiology & neuro-otology","volume":"9","issue":"1","pages":"34-46","figures":[{"pmid":"14676472","figure":"4","kind":"ARTA","description":"GSDME/DFNA5: ARTAs van de oorspronkelijke en de nieuwe Nederlandse familie.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1159/000074185","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"14676472","affiliations":["Department of Otorhinolaryngology, University Medical Centre Nijmegen, Nijmegen, The Netherlands. a.bischoff@kno.umcn.nl","Department of Otorhinolaryngology, University Medical Centre Nijmegen, Nijmegen, The Netherlands. a.bischoff@kno.umcn.nl"],"group_authors":["Huygen PL","Cremers FP","Cremers CW","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"4","file":"14676472_fig_04.png","source_url":"https://doi.org/10.1159/000074185","article_url":"https://pubmed.ncbi.nlm.nih.gov/14676472/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"GSDME/DFNA5: ARTAs van de oorspronkelijke en de nieuwe Nederlandse familie.","kind":"ARTA"}]},{"locus":"DFNA5","gene":"GSDME","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"12408063","doi":"10.1159/000066800","title":"Clinical features of DFNA5.","authors":"De Leenheer EM, van Zuijlen DA, Van Laer L, Van Camp G, Huygen PL, Huizing EH, Cremers CW.","year":2002,"journal":"Advances in oto-rhino-laryngology","volume":"61","issue":"","pages":"53-59","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"12408063","affiliations":["Department of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands.","Department of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands."],"group_authors":["Huygen PL","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA6/14/38","gene":"WFS1","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"10437687","doi":"10.3109/00206099909073018","title":"Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions.","authors":"Kunst H, Marres H, Huygen P, Van Camp G, Joosten F, Cremers C.","year":1999,"journal":"Audiology : official organ of the International Society of Audiology","volume":"38","issue":"3","pages":"165-173","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"10437687","affiliations":["Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands.","Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands."],"group_authors":["Kunst H","Huygen P","Cremers C"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA6/14/38","gene":"WFS1","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"12707188","doi":"10.1001/archotol.129.4.421","title":"Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).","authors":"Pennings RJ, Bom SJ, Cryns K, Flothmann K, Huygen PL, Kremer H, Van Camp G, Cremers CW.","year":2003,"journal":"Archives of otolaryngology--head & neck surgery","volume":"129","issue":"4","pages":"421-426","figures":[{"pmid":"12707188","figure":"2","kind":"regression","description":"Frequentiespecifieke drempel-leeftijdregressies, cross-sectioneel.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://jamanetwork.com/journals/jamaotolaryngology/fullarticle/483811"},{"pmid":"12707188","figure":"4","kind":"longitudinal","description":"Individuele longitudinale drempel-leeftijdanalyses.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://jamanetwork.com/journals/jamaotolaryngology/fullarticle/483811"},{"pmid":"12707188","figure":"3","kind":"ARTA","description":"WFS1: ARTAs van vijf families met verschillende varianten; oorspronkelijk figuur 3.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1001/archotol.129.4.421","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"12707188","affiliations":["Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands. r.pennings@kno.azn.nl","Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands. r.pennings@kno.azn.nl"],"group_authors":["Pennings RJ","Huygen PL","Kremer H","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"3","file":"12707188_fig_03.png","source_url":"https://doi.org/10.1001/archotol.129.4.421","article_url":"https://pubmed.ncbi.nlm.nih.gov/12707188/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"WFS1: ARTAs van vijf families met verschillende varianten; oorspronkelijk figuur 3.","kind":"ARTA"}]},{"locus":"DFNA6/14/38","gene":"WFS1","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"36833385","doi":"10.3390/genes14020457","title":"Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.","authors":"Velde HM, Huizenga XJJ, Yntema HG, Haer-Wigman L, Beynon AJ, Oostrik J, Pegge SAH, Kremer H, Lanting CP, Pennings RJE.","year":2023,"journal":"Genes","volume":"14","issue":"2","pages":"457","figures":[{"pmid":"36833385","figure":"2A","kind":"audiograms","description":"Individuele audiogrammen met leeftijd/geslacht-specifieke p95.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9957259/"},{"pmid":"36833385","figure":"2B","kind":"mean","description":"Gemiddeld audiogram met 95%-BI.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9957259/"},{"pmid":"36833385","figure":"2C","kind":"ARTA","description":"ARTA uit cross-sectionele regressies van laatste audiogrammen.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9957259/"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"36833385","affiliations":["Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, The Netherlands.","The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, The Netherlands.","The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Department of Medical Imaging, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, 6525 GA Nijmegen, The Netherlands."],"group_authors":["Kremer H","Lanting CP","Pennings RJE"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"36833385_fig_02.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bcb8/9957259/aa51c892f115/genes-14-00457-g002.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9957259/","license_url":"https://creativecommons.org/licenses/by/4.0/","reuse_status":"allowed","license_name":"CC BY 4.0","reuse_condition":"attribution","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""}]},{"locus":"DFNA7","gene":"LMX1A","group":"main","inheritance":"DFNA","contribution":"gene-disease identification","pmid":"29754270","doi":"10.1007/s00439-018-1880-5","title":"Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.","authors":"Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC, DOOFNL Consortium, Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H.","year":2018,"journal":"Human genetics","volume":"137","issue":"5","pages":"389-400","figures":[{"pmid":"29754270","figure":"3","kind":"audiograms","description":"Eerste en laatste audiogrammen, met leeftijd/geslacht-specifieke ISO-p95.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC5973959/"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"29754270","affiliations":["Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands.","Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Medical Psychology, Radboud University Medical Center, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Dermatology, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Radiology, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. hannie.kremer@radboudumc.nl.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. hannie.kremer@radboudumc.nl.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. hannie.kremer@radboudumc.nl."],"group_authors":["Wesdorp M","Schraders M","Kunst HPM","Pennings RJE","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"3","file":"29754270_fig_03.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c4bf/5973959/051207cb2492/439_2018_1880_Fig3_HTML.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC5973959/","license_url":"http://creativecommons.org/licenses/by/4.0/","reuse_status":"allowed","license_name":"CC BY 4.0","reuse_condition":"attribution","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""}]},{"locus":"DFNA8/12","gene":"TECTA","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"16718611","doi":"10.1007/s10162-006-0033-z","title":"A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.","authors":"Plantinga RF, de Brouwer AP, Huygen PL, Kunst HP, Kremer H, Cremers CW.","year":2006,"journal":"Journal of the Association for Research in Otolaryngology : JARO","volume":"7","issue":"2","pages":"173-181","figures":[{"pmid":"16718611","figure":"2","kind":"audiograms","description":"Binaurale audiogrammen met leeftijdslabels.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2504577/"},{"pmid":"16718611","figure":"3","kind":"regression","description":"Cross-sectionele lineaire drempel-leeftijdregressies per frequentie.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2504577/"},{"pmid":"16718611","figure":"4","kind":"mean","description":"Cohortgemiddelde en SD, vergeleken met eerder beschreven families.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2504577/"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"16718611","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. r.plantinga@kno.umcn.nl","Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. r.plantinga@kno.umcn.nl"],"group_authors":["Huygen PL","Kunst HP","Kremer H","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"16718611_fig_02.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ddf/2504577/9e0335b613bc/10162_2006_33_Fig2_HTML.jpg","article_url":"https://pubmed.ncbi.nlm.nih.gov/16718611/","license_url":null,"reuse_status":"legacy","license_name":null,"reuse_condition":null,"conversion":null,"description":"","kind":""}]},{"locus":"DFNA8/12","gene":"TECTA","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"17136632","doi":"10.1007/s10162-006-0060-9","title":"Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family.","authors":"Plantinga RF, Cremers CW, Huygen PL, Kunst HP, Bosman AJ.","year":2007,"journal":"Journal of the Association for Research in Otolaryngology : JARO","volume":"8","issue":"1","pages":"1-7","figures":[{"pmid":"17136632","figure":"2","kind":"audiograms","description":"TECTA/DFNA8/12: individuele gehoordrempels en loudness-discomfortniveaus.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1007/s10162-006-0060-9","checked_at":"2026-10-21","checked_by":"Codex"},{"pmid":"17136632","figure":"6","kind":"speech-in-noise","description":"TECTA/DFNA8/12: spraakverstaandrempels in ruis; onderscheiden van pure-toonaudiometrie.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1007/s10162-006-0060-9","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"17136632","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands."],"group_authors":["Cremers CW","Huygen PL","Kunst HP"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"17136632_fig_02.png","source_url":"https://doi.org/10.1007/s10162-006-0060-9","article_url":"https://pubmed.ncbi.nlm.nih.gov/17136632/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"TECTA/DFNA8/12: individuele gehoordrempels en loudness-discomfortniveaus.","kind":"audiograms"},{"figure":"6","file":"17136632_fig_06.png","source_url":"https://doi.org/10.1007/s10162-006-0060-9","article_url":"https://pubmed.ncbi.nlm.nih.gov/17136632/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"TECTA/DFNA8/12: spraakverstaandrempels in ruis; onderscheiden van pure-toonaudiometrie.","kind":"speech-in-noise"}]},{"locus":"DFNA8/12","gene":"TECTA","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"19005249","doi":"10.1159/000171477","title":"Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.","authors":"de Heer AR, Pauw RJ, Huygen PL, Collin RW, Kremer H, Cremers CW.","year":2009,"journal":"Audiology & neuro-otology","volume":"14","issue":"3","pages":"153-162","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"19005249","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, NL-6500 HB Nijmegen, The Netherlands. A.deHeer@kno.umcn.nl","Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, NL-6500 HB Nijmegen, The Netherlands. A.deHeer@kno.umcn.nl"],"group_authors":["Huygen PL","Kremer H","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA8/12","gene":"TECTA","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"18575463","doi":"10.1038/ejhg.2008.110","title":"Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.","authors":"Collin RW, de Heer AM, Oostrik J, Pauw RJ, Plantinga RF, Huygen PL, Admiraal R, de Brouwer AP, Strom TM, Cremers CW, Kremer H.","year":2008,"journal":"European journal of human genetics : EJHG","volume":"16","issue":"12","pages":"1430-1436","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"18575463","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands."],"group_authors":["Huygen PL","Cremers CW","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA9","gene":"COCH","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"9931344","doi":"10.1093/hmg/8.2.361","title":"A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.","authors":"de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, Brunner HG, Cremers CW, Cremers FP.","year":1999,"journal":"Human molecular genetics","volume":"8","issue":"2","pages":"361-366","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"9931344","affiliations":["Department of Human Genetics and Department of Otorhinolaryngology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.","Department of Human Genetics and Department of Otorhinolaryngology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands."],"group_authors":["Huygen PL","Cremers CW","Cremers FP"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA9","gene":"COCH","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"12656423","doi":"10.1177/000348940311200316","title":"Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH.","authors":"Bom SJ, Kemperman MH, Huygen PL, Luijendijk MW, Cremers CW.","year":2003,"journal":"The Annals of otology, rhinology, and laryngology","volume":"112","issue":"3","pages":"280-286","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"12656423","affiliations":["Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands."],"group_authors":["Huygen PL","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA9","gene":"COCH","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"35204720","doi":"10.3390/biom12020220","title":"Genotype-Phenotype Correlations of Pathogenic <i>COCH</i> Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.","authors":"Robijn SMM, Smits JJ, Sezer K, Huygen PLM, Beynon AJ, van Wijk E, Kremer H, de Vrieze E, Lanting CP, Pennings RJE.","year":2022,"journal":"Biomolecules","volume":"12","issue":"2","pages":"220","figures":[{"pmid":"35204720","figure":"4","kind":"ARTA","description":"Variant-specifieke ARTAs voor veertien COCH-varianten.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8961530/"},{"pmid":"35204720","figure":"5","kind":"progression","description":"Leeftijd en drempelachteruitgang per variant/domein; combineert verschillende gegevensvormen.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8961530/"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"35204720","affiliations":["Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands."],"group_authors":["Huygen PLM","van Wijk E","Kremer H","Lanting CP","Pennings RJE"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"4","file":"35204720_fig_04.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c59/8961530/0478c44df8fe/biomolecules-12-00220-g004.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8961530/","license_url":"https://creativecommons.org/licenses/by/4.0/","reuse_status":"allowed","license_name":"CC BY 4.0","reuse_condition":"attribution","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""},{"figure":"5","file":"35204720_fig_05.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c59/8961530/ebfa27539862/biomolecules-12-00220-g005.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8961530/","license_url":"https://creativecommons.org/licenses/by/4.0/","reuse_status":"allowed","license_name":"CC BY 4.0","reuse_condition":"attribution","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""}]},{"locus":"DFNA9","gene":"COCH","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"38167558","doi":"10.1038/s41598-023-50583-6","title":"Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene.","authors":"Moyaert J, Gilles A, Mertens G, Lammers MJW, Gommeren H, Janssens de Varebeke S, Fransen E, Verhaert N, Denys S, van de Berg R, Pennings R, Vanderveken O, Van Rompaey V.","year":2024,"journal":"Scientific reports","volume":"14","issue":"1","pages":"184","figures":[{"pmid":"38167558","figure":"2","kind":"longitudinal","description":"Frequentiespecifieke prospectieve drempel-leeftijdtrajecten en lowess-trend.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10762206/"},{"pmid":"38167558","figure":"4","kind":"asymmetry","description":"Interaurale drempelverschillen over de tijd.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10762206/"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"38167558","affiliations":["Department of Otorhinolaryngology and Head and Neck Surgery, Radboud UMC, Nijmegen, The Netherlands."],"group_authors":["Pennings R"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"38167558_fig_02.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82f5/10762206/03727bac4a43/41598_2023_50583_Fig2_HTML.jpg","article_url":"https://pubmed.ncbi.nlm.nih.gov/38167558/","license_url":null,"reuse_status":"legacy","license_name":null,"reuse_condition":null,"conversion":null,"description":"","kind":""}]},{"locus":"DFNA10","gene":"EYA4","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"11558763","doi":"10.1177/000348940111000910","title":"The DFNA10 phenotype.","authors":"De Leenheer EM, Huygen PL, Wayne S, Smith RJ, Cremers CW.","year":2001,"journal":"The Annals of otology, rhinology, and laryngology","volume":"110","issue":"9","pages":"861-866","figures":[{"pmid":"11558763","figure":"3","kind":"regression","description":"DFNA10/EYA4: cross-sectionele gehoordrempel-leeftijdregressies; geen klassieke ARTA.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1177/000348940111000910","checked_at":"2026-10-21","checked_by":"Codex"},{"pmid":"11558763","figure":"4","kind":"mean","description":"DFNA10/EYA4: gemiddeld leeftijdsgecorrigeerd audiogram; geen leeftijdsreeks van ARTAs.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1177/000348940111000910","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"11558763","affiliations":["Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands.","Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands."],"group_authors":["Huygen PL","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"3","file":"11558763_fig_03.png","source_url":"https://doi.org/10.1177/000348940111000910","article_url":"https://pubmed.ncbi.nlm.nih.gov/11558763/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"DFNA10/EYA4: cross-sectionele gehoordrempel-leeftijdregressies; geen klassieke ARTA.","kind":"regression"},{"figure":"4","file":"11558763_fig_04.png","source_url":"https://doi.org/10.1177/000348940111000910","article_url":"https://pubmed.ncbi.nlm.nih.gov/11558763/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"DFNA10/EYA4: gemiddeld leeftijdsgecorrigeerd audiogram; geen leeftijdsreeks van ARTAs.","kind":"mean"}]},{"locus":"DFNA10","gene":"EYA4","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"26331839","doi":"10.1097/aud.0000000000000217","title":"Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.","authors":"van Beelen E, Oonk AM, Leijendeckers JM, Hoefsloot EH, Pennings RJ, Feenstra I, Dieker HJ, Huygen PL, Snik AF, Kremer H, Kunst HP.","year":2016,"journal":"Ear and hearing","volume":"37","issue":"1","pages":"103-111","figures":[{"pmid":"26331839","figure":"4","kind":"ARTA","description":"EYA4/DFNA10: ARTA afgeleid uit cross-sectionele regressies van 14 variantdragers.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1097/aud.0000000000000217","checked_at":"2026-10-21","checked_by":"Codex"},{"pmid":"26331839","figure":"6","kind":"speech-in-noise","description":"EYA4/DFNA10: individuele en vergelijkende spraak-in-ruisuitkomsten, geen drempel-ARTA.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1097/aud.0000000000000217","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"26331839","affiliations":["1Department of Otorhinolaryngology, Head and Neck Surgery, Radboud university medical center, Nijmegen, The Netherlands; 2Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; 3Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; 4Donders Institute for Brain, Cognition and Behavior, Radboud University, Nijmegen, The Netherlands; 5Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands; and 6Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.","1Department of Otorhinolaryngology, Head and Neck Surgery, Radboud university medical center, Nijmegen, The Netherlands; 2Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; 3Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; 4Donders Institute for Brain, Cognition and Behavior, Radboud University, Nijmegen, The Netherlands; 5Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands; and 6Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands."],"group_authors":["Oonk AM","Pennings RJ","Huygen PL","Kremer H","Kunst HP"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"4","file":"26331839_fig_04.png","source_url":"https://doi.org/10.1097/aud.0000000000000217","article_url":"https://pubmed.ncbi.nlm.nih.gov/26331839/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"EYA4/DFNA10: ARTA afgeleid uit cross-sectionele regressies van 14 variantdragers.","kind":"ARTA"},{"figure":"6","file":"26331839_fig_06.png","source_url":"https://doi.org/10.1097/aud.0000000000000217","article_url":"https://pubmed.ncbi.nlm.nih.gov/26331839/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"EYA4/DFNA10: individuele en vergelijkende spraak-in-ruisuitkomsten, geen drempel-ARTA.","kind":"speech-in-noise"}]},{"locus":"DFNA10","gene":"EYA4","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"32277154","doi":"10.1038/s41598-020-63256-5","title":"Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.","authors":"Morín M, Borreguero L, Booth KT, Lachgar M, Huygen P, Villamar M, Mayo F, Barrio LC, Santos Serrão de Castro L, Morales C, Del Castillo I, Arellano B, Tellería D, Smith RJH, Azaiez H, Moreno Pelayo MA.","year":2020,"journal":"Scientific reports","volume":"10","issue":"1","pages":"6213","figures":[{"pmid":"32277154","figure":"1–2","kind":"audiograms","description":"Familie-audiogrammen samen met segregatiegegevens.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC7148344/"},{"pmid":"32277154","figure":"3D","kind":"ARTA","description":"ARTA bij EYA4-gerelateerd gehoorverlies.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC7148344/"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"32277154","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands."],"group_authors":["Huygen P"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"1","file":"32277154_fig_01.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1184/7148344/124d0b8add9c/41598_2020_63256_Fig1_HTML.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC7148344/","license_url":"http://creativecommons.org/licenses/by/4.0/","reuse_status":"allowed","license_name":"CC BY 4.0","reuse_condition":"attribution","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""},{"figure":"3","file":"32277154_fig_03.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1184/7148344/47722f204fc7/41598_2020_63256_Fig3_HTML.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC7148344/","license_url":"http://creativecommons.org/licenses/by/4.0/","reuse_status":"allowed","license_name":"CC BY 4.0","reuse_condition":"attribution","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""}]},{"locus":"DFNA11","gene":"MYO7A","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"15221449","doi":"10.1007/s00439-004-1137-3","title":"Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).","authors":"Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H.","year":2004,"journal":"Human genetics","volume":"115","issue":"2","pages":"149-156","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"15221449","affiliations":["Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.","Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands."],"group_authors":["Huygen PL","Pennings RJ","Cremers CW","Cremers FP","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA11","gene":"MYO7A","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"16639269","doi":"10.1097/00129492-200604000-00006","title":"Cochleovestibular and ocular features in a Dutch DFNA11 family.","authors":"Bischoff AM, Pennings RJ, Huygen PL, Luijendijk MW, van Wijk E, Cruysberg JR, Kremer H, Cremers CW.","year":2006,"journal":"Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology","volume":"27","issue":"3","pages":"323-331","figures":[{"pmid":"16639269","figure":"5","kind":"ARTA","description":"MYO7A/DFNA11: cross-sectionele ARTAs van de Nederlandse familie en twee vergelijkingsfamilies.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1097/00129492-200604000-00006","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"16639269","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. a.bischoff@kno.umcn.nl","Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. a.bischoff@kno.umcn.nl"],"group_authors":["Pennings RJ","Huygen PL","van Wijk E","Kremer H","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"5","file":"16639269_fig_05.png","source_url":"https://doi.org/10.1097/00129492-200604000-00006","article_url":"https://pubmed.ncbi.nlm.nih.gov/16639269/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"MYO7A/DFNA11: cross-sectionele ARTAs van de Nederlandse familie en twee vergelijkingsfamilies.","kind":"ARTA"}]},{"locus":"DFNA13","gene":"COL11A2","group":"main","inheritance":"DFNA","contribution":"gene-disease identification and phenotyping","pmid":"10581026","doi":"10.1038/70516","title":"Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).","authors":"McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ.","year":1999,"journal":"Nature genetics","volume":"23","issue":"4","pages":"413-419","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"10581026","affiliations":[],"group_authors":["Kunst HP","Cremers CW"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[]},{"locus":"DFNA13","gene":"COL11A2","group":"main","inheritance":"DFNA","contribution":"gene-disease identification and phenotyping","pmid":"10733181","doi":"10.1016/s0196-0709(00)80006-x","title":"The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.","authors":"Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C.","year":2000,"journal":"The American journal of otology","volume":"21","issue":"2","pages":"181-187","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"10733181","affiliations":["Department of Otorhinolaryngology, University Hospital, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, University Hospital, Nijmegen, The Netherlands."],"group_authors":["Kunst H","Huygen P","Cremers C"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA13","gene":"COL11A2","group":"main","inheritance":"DFNA","contribution":"gene-disease identification and phenotyping","pmid":"15562903","doi":"10.1177/000348940411301112","title":"Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family.","authors":"De Leenheer EM, Bosman AJ, Kunst HP, Huygen PL, Cremers CW.","year":2004,"journal":"The Annals of otology, rhinology, and laryngology","volume":"113","issue":"11","pages":"922-929","figures":[{"pmid":"15562903","figure":"2","kind":"audiograms","description":"COL11A2/DFNA13: individuele gehoordrempels en loudness-discomfortniveaus; geen ARTA.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1177/000348940411301112","checked_at":"2026-10-21","checked_by":"Codex"},{"pmid":"15562903","figure":"6","kind":"speech-in-noise","description":"COL11A2/DFNA13: spraakverstaandrempels in ruis, vergelijking met normaalhorenden.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1177/000348940411301112","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"15562903","affiliations":["Department of Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, The Netherlands."],"group_authors":["Kunst HP","Huygen PL","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"15562903_fig_02.png","source_url":"https://doi.org/10.1177/000348940411301112","article_url":"https://pubmed.ncbi.nlm.nih.gov/15562903/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"COL11A2/DFNA13: individuele gehoordrempels en loudness-discomfortniveaus; geen ARTA.","kind":"audiograms"},{"figure":"6","file":"15562903_fig_06.png","source_url":"https://doi.org/10.1177/000348940411301112","article_url":"https://pubmed.ncbi.nlm.nih.gov/15562903/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"COL11A2/DFNA13: spraakverstaandrempels in ruis, vergelijking met normaalhorenden.","kind":"speech-in-noise"}]},{"locus":"DFNA15","gene":"POU4F3","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"18228599","doi":"10.1002/humu.20693","title":"Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.","authors":"Collin RW, Chellappa R, Pauw RJ, Vriend G, Oostrik J, van Drunen W, Huygen PL, Admiraal R, Hoefsloot LH, Cremers FP, Xiang M, Cremers CW, Kremer H.","year":2008,"journal":"Human mutation","volume":"29","issue":"4","pages":"545-554","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"18228599","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands."],"group_authors":["Huygen PL","Cremers FP","Cremers CW","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA15","gene":"POU4F3","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"18347256","doi":"10.1001/archotol.134.3.294","title":"Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.","authors":"Pauw RJ, van Drunen FJ, Collin RW, Huygen PL, Kremer H, Cremers CW.","year":2008,"journal":"Archives of otolaryngology--head & neck surgery","volume":"134","issue":"3","pages":"294-300","figures":[{"pmid":"18347256","figure":"4","kind":"ARTA","description":"POU4F3/DFNA15 p.Leu289Phe: cross-sectionele ARTA Nederlandse familie (A) en oorspronkelijke Israëlische familie (B).","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1001/archotol.134.3.294","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"18347256","affiliations":["Department of Otorhinolaryngology, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, the Netherlands. R.Pauw@kno.umcn.nl","Department of Otorhinolaryngology, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, the Netherlands. R.Pauw@kno.umcn.nl"],"group_authors":["Huygen PL","Kremer H","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"4","file":"18347256_fig_04.png","source_url":"https://doi.org/10.1001/archotol.134.3.294","article_url":"https://pubmed.ncbi.nlm.nih.gov/18347256/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"POU4F3/DFNA15 p.Leu289Phe: cross-sectionele ARTA Nederlandse familie (A) en oorspronkelijke Israëlische familie (B).","kind":"ARTA"}]},{"locus":"DFNA15","gene":"POU4F3","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"19462854","doi":"10.1177/000348940911800413","title":"Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.","authors":"de Heer AM, Huygen PL, Collin RW, Kremer H, Cremers CW.","year":2009,"journal":"The Annals of otology, rhinology, and laryngology","volume":"118","issue":"4","pages":"313-320","figures":[{"pmid":"19462854","figure":"4","kind":"ARTA","description":"POU4F3/DFNA15: ARTAs voor de huidige familie met p.Asp51Asn, vergeleken met eerder beschreven families.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1177/000348940911800413","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"19462854","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands."],"group_authors":["Huygen PL","Kremer H","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"4","file":"19462854_fig_04.png","source_url":"https://doi.org/10.1177/000348940911800413","article_url":"https://pubmed.ncbi.nlm.nih.gov/19462854/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"POU4F3/DFNA15: ARTAs voor de huidige familie met p.Asp51Asn, vergeleken met eerder beschreven families.","kind":"ARTA"}]},{"locus":"DFNA20/26","gene":"ACTG1","group":"main","inheritance":"DFNA","contribution":"gene-disease identification and phenotyping","pmid":"14684684","doi":"10.1136/jmg.40.12.879","title":"A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).","authors":"van Wijk E, Krieger E, Kemperman MH, De Leenheer EM, Huygen PL, Cremers CW, Cremers FP, Kremer H.","year":2003,"journal":"Journal of medical genetics","volume":"40","issue":"12","pages":"879-884","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"14684684","affiliations":["Department of Otorhinolaryngology, University Medical Centre, Nijmegen, Netherlands.","Department of Otorhinolaryngology, University Medical Centre, Nijmegen, Netherlands."],"group_authors":["van Wijk E","Huygen PL","Cremers CW","Cremers FP","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA20/26","gene":"ACTG1","group":"main","inheritance":"DFNA","contribution":"gene-disease identification and phenotyping","pmid":"15023833","doi":"10.1001/archotol.130.3.281","title":"A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.","authors":"Kemperman MH, De Leenheer EM, Huygen PL, van Wijk E, van Duijnhoven G, Cremers FP, Kremer H, Cremers CW.","year":2004,"journal":"Archives of otolaryngology--head & neck surgery","volume":"130","issue":"3","pages":"281-288","figures":[{"pmid":"15023833","figure":"4","kind":"ARTA","description":"ACTG1/DFNA20/26: ARTAs Nederlandse familie en oorspronkelijke Amerikaanse DFNA20-familie.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1001/archotol.130.3.281","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"15023833","affiliations":["Department of Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, The Netherlands. M.Kemperman@kno.umcn.nl","Department of Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, The Netherlands. M.Kemperman@kno.umcn.nl"],"group_authors":["Huygen PL","van Wijk E","Cremers FP","Kremer H","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"4","file":"15023833_fig_04.png","source_url":"https://doi.org/10.1001/archotol.130.3.281","article_url":"https://pubmed.ncbi.nlm.nih.gov/15023833/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"ACTG1/DFNA20/26: ARTAs Nederlandse familie en oorspronkelijke Amerikaanse DFNA20-familie.","kind":"ARTA"}]},{"locus":"DFNA20/26","gene":"ACTG1","group":"main","inheritance":"DFNA","contribution":"gene-disease identification and phenotyping","pmid":"19548389","doi":"10.1177/000348940911800511","title":"Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.","authors":"de Heer AM, Huygen PL, Collin RW, Oostrik J, Kremer H, Cremers CW.","year":2009,"journal":"The Annals of otology, rhinology, and laryngology","volume":"118","issue":"5","pages":"382-390","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"19548389","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands."],"group_authors":["Huygen PL","Kremer H","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA21","gene":"RIPOR2","group":"main","inheritance":"DFNA","contribution":"gene-disease identification and phenotyping","pmid":"10764236","doi":"10.1046/j.1365-2273.2000.00327.x","title":"Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21).","authors":"Kunst H, Marres H, Huygen P, van Duijnhoven G, Krebsova A, van der Velde S, Reis A, Cremers F, Cremers C.","year":2000,"journal":"Clinical otolaryngology and allied sciences","volume":"25","issue":"1","pages":"45-54","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"10764236","affiliations":["Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands.","Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands."],"group_authors":["Kunst H","Huygen P","Cremers F","Cremers C"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA21","gene":"RIPOR2","group":"main","inheritance":"DFNA","contribution":"gene-disease identification and phenotyping","pmid":"32631815","doi":"10.1136/jmedgenet-2020-106863","title":"A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.","authors":"de Bruijn SE, Smits JJ, Liu C, Lanting CP, Beynon AJ, Blankevoort J, Oostrik J, Koole W, de Vrieze E, Cremers CWRJ, Cremers FPM, Roosing S, Yntema HG, Kunst HPM, Zhao B, Pennings RJE, Kremer H, DOOFNL Consortium.","year":2020,"journal":"Journal of medical genetics","volume":"","issue":"","pages":"jmedgenet-2020-106863","figures":[{"pmid":"32631815","figure":"3","kind":"ARTA","description":"RIPOR2/DFNA21: figuur 3A–C toont individuele audiogrammen; paneel D een cross-sectionele ARTA.","check":"Originele PDF, onderschrift en figuuruitsnede visueel gecontroleerd; hergebruikstatus afzonderlijk vastgelegd.","source_url":"https://doi.org/10.1136/jmedgenet-2020-106863","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"32631815","affiliations":["Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Radboud Institute for Health Sciences, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands Hannie.Kremer@radboudumc.nl.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands."],"group_authors":["Lanting CP","Cremers CWRJ","Cremers FPM","Kunst HPM","Pennings RJE","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"3","file":"32631815_fig_03.png","source_url":"https://doi.org/10.1136/jmedgenet-2020-106863","article_url":"https://pubmed.ncbi.nlm.nih.gov/32631815/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Figuuruitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"RIPOR2/DFNA21: figuur 3A–C toont individuele audiogrammen; paneel D een cross-sectionele ARTA.","kind":"ARTA"}]},{"locus":"DFNA21","gene":"RIPOR2","group":"main","inheritance":"DFNA","contribution":"gene-disease identification and phenotyping","pmid":"37164627","doi":"10.1136/jmg-2023-109146","title":"Analysis of Rotterdam Study cohorts confirms a previously identified <i>RIPOR2</i> in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands.","authors":"Velde HM, Homans NC, Goedegebure A, Lanting CP, Pennings RJE, Kremer H.","year":2023,"journal":"Journal of medical genetics","volume":"60","issue":"11","pages":"1061-1066","figures":[{"pmid":"37164627","figure":"2","kind":"ARTA","description":"RIPOR2/DFNA21: ARTAs uit de Rotterdam Study (zwart, leeftijd 55–85 jaar) tegenover eerder gepubliceerde familiegegevens (grijs); verschillende cohorten en leeftijdsbereiken.","check":"Originele PDF, onderschrift en figuuruitsnede visueel gecontroleerd; hergebruikstatus afzonderlijk vastgelegd.","source_url":"https://doi.org/10.1136/jmg-2023-109146","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"37164627","affiliations":["Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.","Donders Institute for Brain Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands Hannie.Kremer@radboudumc.nl.","Department of Otorhinolaryngology and Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands."],"group_authors":["Lanting CP","Pennings RJE","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"37164627_fig_02.png","source_url":"https://doi.org/10.1136/jmg-2023-109146","article_url":"https://pubmed.ncbi.nlm.nih.gov/37164627/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Figuuruitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"RIPOR2/DFNA21: ARTAs uit de Rotterdam Study (zwart, leeftijd 55–85 jaar) tegenover eerder gepubliceerde familiegegevens (grijs); verschillende cohorten en leeftijdsbereiken.","kind":"ARTA"}]},{"locus":"DFNA22","gene":"MYO6","group":"main","inheritance":"DFNA","contribution":"phenotyping","pmid":"23340379","doi":"10.1016/j.heares.2012.12.015","title":"Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis.","authors":"Oonk AM, Leijendeckers JM, Lammers EM, Weegerink NJ, Oostrik J, Beynon AJ, Huygen PL, Kunst HP, Kremer H, Snik AF, Pennings RJ.","year":2013,"journal":"Hearing research","volume":"299","issue":"","pages":"88-98","figures":[{"pmid":"23340379","figure":"5","kind":"ARTA","description":"MYO6/DFNA22: ARTAs met lineair model, presbyacusismodel en vergelijking met andere DFNA22-families; extrapolaties apart aangeduid.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1016/j.heares.2012.12.015","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"23340379","affiliations":["Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. a.oonk@kno.umcn.nl","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. a.oonk@kno.umcn.nl"],"group_authors":["Oonk AM","Huygen PL","Kunst HP","Kremer H","Pennings RJ"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"5","file":"23340379_fig_05.png","source_url":"https://doi.org/10.1016/j.heares.2012.12.015","article_url":"https://pubmed.ncbi.nlm.nih.gov/23340379/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"MYO6/DFNA22: ARTAs met lineair model, presbyacusismodel en vergelijking met andere DFNA22-families; extrapolaties apart aangeduid.","kind":"ARTA"}]},{"locus":"DFNA37","gene":"COL11A1","group":"main","inheritance":"DFNA","contribution":"gene-disease identification","pmid":"30245514","doi":"10.1038/s41436-018-0285-0","title":"Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.","authors":"Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD.","year":2019,"journal":"Genetics in medicine : official journal of the American College of Medical Genetics","volume":"21","issue":"4","pages":"948-954","figures":[{"pmid":"30245514","figure":"1B","kind":"ARTA","description":"ARTAs met binaurale gemiddelde luchtgeleidingsdrempels voor leeftijden10–60jaar.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6431578/"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"30245514","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands."],"group_authors":["Huygen PLM"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"1","file":"30245514_fig_01.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/afbe/6752306/720ebb89a4f1/41436_2018_285_Fig1_HTML.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6431578/","license_url":"http://creativecommons.org/licenses/by/4.0/","reuse_status":"allowed","license_name":"CC BY 4.0","reuse_condition":"attribution","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""}]},{"locus":"DFNA65","gene":"TBC1D24","group":"main","inheritance":"DFNA","contribution":"gene-disease identification","pmid":"24729539","doi":"10.1002/humu.22557","title":"TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.","authors":"Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ.","year":2014,"journal":"Human mutation","volume":"35","issue":"7","pages":"819-823","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"24729539","affiliations":[],"group_authors":["Huygen P"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[]},{"locus":"DFNA66","gene":"CD164","group":"main","inheritance":"DFNA","contribution":"gene-disease identification","pmid":"26197441","doi":"10.1371/journal.pgen.1005386","title":"A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.","authors":"Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Crüger DG, Oostrik J, Kremer H, Tommerup N, Frödin M, Steel KP, Tranebjærg L, Børglum AD.","year":2015,"journal":"PLoS genetics","volume":"11","issue":"7","pages":"e1005386","figures":[{"pmid":"26197441","figure":"1B","kind":"audiograms","description":"Herhaalde linker- en rechteroor-audiogrammen van een aangedaan familielid.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4510537/"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"26197441","affiliations":["Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, Nijmegen, Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, Nijmegen, Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Nijmegen, Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Nijmegen, Netherlands."],"group_authors":["Kremer H"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"1","file":"26197441_fig_01.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4fe/4510537/6f1a2a555455/pgen.1005386.g001.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4510537/","license_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4510537/","reuse_status":"allowed","license_name":"Creative Commons Attribution","reuse_condition":"attribution","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""}]},{"locus":"DFNA69","gene":"KITLG","group":"main","inheritance":"DFNA","contribution":"gene-disease identification","pmid":"26522471","doi":"10.1016/j.ajhg.2015.09.011","title":"Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.","authors":"Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J, Baylor-Hopkins Center for Mendelian Genomics, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H.","year":2015,"journal":"American journal of human genetics","volume":"97","issue":"5","pages":"647-660","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"26522471","affiliations":["Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Psychiatry, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Cognitive Neuroscience, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Hematology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Hematology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Department of Dermatology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.","Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands. Electronic address: hannie.kremer@radboudumc.nl."],"group_authors":["Schraders M","Wesdorp M","Huygen PL","Pennings RJ","Kunst HP","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA82","gene":"ATP2B2","group":"main","inheritance":"DFNA","contribution":"gene-disease identification","pmid":"30535804","doi":"10.1007/s00439-018-1965-1","title":"De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.","authors":"Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P, DOOFNL Consortium, Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H.","year":2019,"journal":"Human genetics","volume":"138","issue":"1","pages":"61-72","figures":[{"pmid":"30535804","figure":"2A","kind":"audiograms","description":"Individuele en herhaalde audiogrammen met ISO7029-referentie.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6514080/"},{"pmid":"30535804","figure":"2B","kind":"ARTA","description":"ARTA van elf personen met een ATP2B2-variant.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6514080/"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"30535804","affiliations":["Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Human Genetics, Radboud University Medical Center, Internal postal code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Hearing and Genes, Department of Human Genetics, Radboud University Medical Center, Internal postal code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Human Genetics, Radboud University Medical Center, Internal postal code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Human Genetics, Radboud University Medical Center, Internal postal code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands. Hannie.Kremer@Radboudumc.nl.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Hannie.Kremer@Radboudumc.nl.","Hearing and Genes, Department of Human Genetics, Radboud University Medical Center, Internal postal code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Hannie.Kremer@Radboudumc.nl."],"group_authors":["Lanting CP","Schraders M","Pennings RJE","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"30535804_fig_02.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/661b/6514080/c783679c19c4/439_2018_1965_Fig2_HTML.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6514080/","license_url":"http://creativecommons.org/licenses/by/4.0/","reuse_status":"allowed","license_name":"CC BY 4.0","reuse_condition":"attribution","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""}]},{"locus":"DFNA85","gene":"USP48","group":"main","inheritance":"DFNA","contribution":"gene-disease identification","pmid":"34059922","doi":"10.1093/hmg/ddab145","title":"Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.","authors":"Bassani S, van Beelen E, Rossel M, Voisin N, Morgan A, Arribat Y, Chatron N, Chrast J, Cocca M, Delprat B, Faletra F, Giannuzzi G, Guex N, Machavoine R, Pradervand S, Smits JJ, van de Kamp JM, Ziegler A, Amati F, Marlin S, Kremer H, Locher H, Maurice T, Gasparini P, Girotto G, Reymond A.","year":2021,"journal":"Human molecular genetics","volume":"30","issue":"19","pages":"1785-1796","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"34059922","affiliations":["Hearing and Genes, Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands."],"group_authors":["Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA90","gene":"MYO3A","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"33953343","doi":"10.1038/s41431-021-00891-0","title":"Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.","authors":"Bueno AS, Nunes K, Dias AMM, Alves LU, Mendes BCA, Sampaio-Silva J, Smits J, Yntema HG, Meyer D, Lezirovitz K, Mingroni-Netto RC.","year":2022,"journal":"European journal of human genetics : EJHG","volume":"30","issue":"1","pages":"13-21","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"33953343","affiliations":["Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands."],"group_authors":[],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB1A","gene":"GJB2","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"14985372","doi":"10.1136/jmg.2003.013896","title":"A genotype-phenotype correlation for GJB2 (connexin 26) deafness.","authors":"Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G.","year":2004,"journal":"Journal of medical genetics","volume":"41","issue":"3","pages":"147-154","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"14985372","affiliations":[],"group_authors":["Huygen PL"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[]},{"locus":"DFNB1A","gene":"GJB2","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"15656949","doi":"10.1016/j.ijporl.2004.08.015","title":"Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.","authors":"Santos RL, Aulchenko YS, Huygen PL, van der Donk KP, de Wijs IJ, Kemperman MH, Admiraal RJ, Kremer H, Hoefsloot LH, Cremers CW.","year":2005,"journal":"International journal of pediatric otorhinolaryngology","volume":"69","issue":"2","pages":"165-174","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"15656949","affiliations":[],"group_authors":["Huygen PL","Kremer H","Cremers CW"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[]},{"locus":"DFNB1A","gene":"GJB2","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"15274422","doi":"10.1177/000348940411300714","title":"Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.","authors":"Stinckens C, Kremer H, van Wijk E, Hoefsloot LH, Huygen PL, Standaert L, Fryns JP, Cremers CW.","year":2004,"journal":"The Annals of otology, rhinology, and laryngology","volume":"113","issue":"7","pages":"587-593","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"15274422","affiliations":[],"group_authors":["Kremer H","van Wijk E","Huygen PL","Cremers CW"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[]},{"locus":"DFNB3","gene":"MYO15A","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"17853461","doi":"10.1002/ajmg.a.31937","title":"MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.","authors":"Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Başerer N, Heister AJ, Hennies HC, Nürnberg P, Başaran S, Brunner HG, Cremers CW, Karaguzel A, Wollnik B, Kremer H.","year":2007,"journal":"American journal of medical genetics. Part A","volume":"143A","issue":"20","pages":"2382-2389","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"17853461","affiliations":["Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. ersankalay@hotmail.com","Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. ersankalay@hotmail.com"],"group_authors":["Kalay E","Cremers CW","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB4","gene":"SLC26A4","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"34410491","doi":"10.1007/s00439-021-02336-6","title":"Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.","authors":"Smits JJ, de Bruijn SE, Lanting CP, Oostrik J, O'Gorman L, Mantere T, DOOFNL Consortium, Cremers FPM, Roosing S, Yntema HG, de Vrieze E, Derks R, Hoischen A, Pegge SAH, Neveling K, Pennings RJE, Kremer H.","year":2022,"journal":"Human genetics","volume":"141","issue":"3-4","pages":"465-484","figures":[{"pmid":"34410491","figure":"3","kind":"threshold-summary","description":"SLC26A4/EVA: pure-tone average per genotypecategorie; geen ARTA en geen frequentiespecifiek audiogram.","check":"Originele PDF, onderschrift en figuuruitsnede visueel gecontroleerd; hergebruikstatus afzonderlijk vastgelegd.","source_url":"https://doi.org/10.1007/s00439-021-02336-6","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"34410491","affiliations":["Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.","Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Radboud Expertise Center for Immunodeficiency and Autoinflammation and Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Radiology and Nuclear Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.","Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl."],"group_authors":["Lanting CP","Cremers FPM","Pennings RJE","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"3","file":"34410491_fig_03.png","source_url":"https://doi.org/10.1007/s00439-021-02336-6","article_url":"https://pubmed.ncbi.nlm.nih.gov/34410491/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Figuuruitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"SLC26A4/EVA: pure-tone average per genotypecategorie; geen ARTA en geen frequentiespecifiek audiogram.","kind":"threshold-summary"}]},{"locus":"DFNB7/11","gene":"TMC1","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"16287143","doi":"10.1002/humu.9384","title":"Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.","authors":"Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H.","year":2005,"journal":"Human mutation","volume":"26","issue":"6","pages":"591","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"16287143","affiliations":["Department of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands. E.Kalay@antrg.umcn.nl","Department of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands. E.Kalay@antrg.umcn.nl"],"group_authors":["Kalay E","Cremers FP","Cremers CW","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB7/11","gene":"TMC1","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"21252500","doi":"10.1159/000313282","title":"Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.","authors":"de Heer AM, Collin RW, Huygen PL, Schraders M, Oostrik J, Rouwette M, Kunst HP, Kremer H, Cremers CW.","year":2011,"journal":"Audiology & neuro-otology","volume":"16","issue":"2","pages":"93-105","figures":[{"pmid":"21252500","figure":"5","kind":"ARTA","description":"TMC1/DFNB7/11: ARTA van de recessieve familie, met DFNA36-families ter vergelijking; panel A is DFNB7/11.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1159/000313282","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"21252500","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands."],"group_authors":["Huygen PL","Schraders M","Kunst HP","Kremer H","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"5","file":"21252500_fig_05.png","source_url":"https://doi.org/10.1159/000313282","article_url":"https://pubmed.ncbi.nlm.nih.gov/21252500/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"TMC1/DFNB7/11: ARTA van de recessieve familie, met DFNA36-families ter vergelijking; panel A is DFNB7/11.","kind":"ARTA"}]},{"locus":"DFNB8/10","gene":"TMPRSS3","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"21786053","doi":"10.1007/s10162-011-0282-3","title":"Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.","authors":"Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP.","year":2011,"journal":"Journal of the Association for Research in Otolaryngology : JARO","volume":"12","issue":"6","pages":"753-766","figures":[{"pmid":"21786053","figure":"2","kind":"audiograms","description":"Binaurale gemiddelde audiogrammen op verschillende leeftijden.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3214237/"},{"pmid":"21786053","figure":"3A","kind":"longitudinal","description":"Individuele longitudinale drempelmetingen per frequentie.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3214237/"},{"pmid":"21786053","figure":"3B","kind":"ARTA","description":"ARTA afgeleid uit analyse van de beschreven TMPRSS3-families.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3214237/"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"21786053","affiliations":["Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands. N.Weegerink@kno.umcn.nl","Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands. N.Weegerink@kno.umcn.nl"],"group_authors":["Schraders M","Huygen PL","Pennings RJ","Cremers CW","Kremer H","Kunst HP"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"21786053_fig_02.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c34/3214237/a102c8624bcc/10162_2011_282_Fig2_HTML.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3214237/","license_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3214237/","reuse_status":"allowed","license_name":"Creative Commons Attribution Noncommercial (version not specified)","reuse_condition":"noncommercial","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""},{"figure":"3","file":"21786053_fig_03.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c34/3214237/18310fa2cbf6/10162_2011_282_Fig3_HTML.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3214237/","license_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3214237/","reuse_status":"allowed","license_name":"Creative Commons Attribution Noncommercial (version not specified)","reuse_condition":"noncommercial","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""}]},{"locus":"DFNB8/10","gene":"TMPRSS3","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"38691166","doi":"10.1007/s00439-024-02648-3","title":"The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.","authors":"Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW, DOOFNL Consortium, Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ.","year":2024,"journal":"Human genetics","volume":"143","issue":"5","pages":"721-734","figures":[{"pmid":"38691166","figure":"2","kind":"audiograms","description":"Individuele/familie-audiogrammen en groepsgemiddelden per DFNB8/10 en genotype.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11098735/"},{"pmid":"38691166","figure":"3B","kind":"regression","description":"Drempel-leeftijdregressies per frequentie en genotype, geen klassieke ARTA-weergave.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11098735/"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"38691166","affiliations":["Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands."],"group_authors":["Lanting C","Kremer H","Pennings R"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"3","file":"38691166_fig_03.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f420/11098878/89f3bc6fd716/439_2024_2648_Fig3_HTML.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11098735/","license_url":"https://creativecommons.org/licenses/by/4.0/","reuse_status":"allowed","license_name":"CC BY 4.0","reuse_condition":"attribution","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""},{"figure":"2","file":"38691166_fig_02.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f420/11098878/485fda085039/439_2024_2648_Fig2_HTML.jpg","article_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11098735/","license_url":"https://creativecommons.org/licenses/by/4.0/","reuse_status":"allowed","license_name":"CC BY 4.0","reuse_condition":"attribution","conversion":"JPEG to PNG; unchanged figure content","description":"","kind":""}]},{"locus":"DFNB12","gene":"CDH23","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"15353998","doi":"10.1097/00129492-200409000-00009","title":"Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).","authors":"Pennings RJ, Topsakal V, Astuto L, de Brouwer AP, Wagenaar M, Huygen PL, Kimberling WJ, Deutman AF, Kremer H, Cremers CW.","year":2004,"journal":"Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology","volume":"25","issue":"5","pages":"699-706","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"15353998","affiliations":["Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, The Netherlands. r.pennings@kno.umcn.nl","Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, The Netherlands. r.pennings@kno.umcn.nl"],"group_authors":["Pennings RJ","Huygen PL","Kremer H","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB12","gene":"CDH23","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"12522556","doi":"10.1007/s00439-002-0833-0","title":"Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.","authors":"de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H.","year":2003,"journal":"Human genetics","volume":"112","issue":"2","pages":"156-163","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"12522556","affiliations":["Department of Otorhinolaryngology, University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.","Department of Otorhinolaryngology, University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands."],"group_authors":["Pennings RJ","Huygen PL","Cremers FP","Cremers CW","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB15/72/95","gene":"GIPC3","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"25296581","doi":"10.1038/jhg.2014.86","title":"A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.","authors":"Siddiqi S, Ismail M, Oostrik J, Munawar S, Mansoor A, Kremer H, Qamar R, Schraders M.","year":2014,"journal":"Journal of human genetics","volume":"59","issue":"12","pages":"683-686","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"25296581","affiliations":["1] Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.","1] Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands [3] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","1] Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands."],"group_authors":["Kremer H","Schraders M"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB18B","gene":"OTOG","group":"main","inheritance":"DFNB","contribution":"gene-disease identification and phenotyping","pmid":"23122587","doi":"10.1016/j.ajhg.2012.09.012","title":"Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.","authors":"Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H.","year":2012,"journal":"American journal of human genetics","volume":"91","issue":"5","pages":"883-889","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"23122587","affiliations":["Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands."],"group_authors":["Schraders M","Kalay E","Pennings RJ","Oonk AM","Kunst HP","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB18B","gene":"OTOG","group":"main","inheritance":"DFNB","contribution":"gene-disease identification and phenotyping","pmid":"24378291","doi":"10.1097/aud.0000000000000008","title":"Similar phenotypes caused by mutations in OTOG and OTOGL.","authors":"Oonk AM, Leijendeckers JM, Huygen PL, Schraders M, del Campo M, del Castillo I, Tekin M, Feenstra I, Beynon AJ, Kunst HP, Snik AF, Kremer H, Admiraal RJ, Pennings RJ.","year":2014,"journal":"Ear and hearing","volume":"35","issue":"3","pages":"e84-91","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"24378291","affiliations":["1Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 4Programa de Medicina Molecular i Genètica, Hospital Vall d'Hebron, Barcelona, Spain; 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain; 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; 7Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; 8John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA; 9Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA; 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey; and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.","1Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 4Programa de Medicina Molecular i Genètica, Hospital Vall d'Hebron, Barcelona, Spain; 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain; 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; 7Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; 8John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA; 9Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA; 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey; and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands."],"group_authors":["Oonk AM","Huygen PL","Schraders M","Kunst HP","Kremer H","Pennings RJ"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB21","gene":"TECTA","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"18022253","doi":"10.1016/j.ijporl.2007.09.023","title":"A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.","authors":"Alasti F, Sanati MH, Behrouzifard AH, Sadeghi A, de Brouwer AP, Kremer H, Smith RJ, Van Camp G.","year":2008,"journal":"International journal of pediatric otorhinolaryngology","volume":"72","issue":"2","pages":"249-255","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"18022253","affiliations":[],"group_authors":["Kremer H"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[]},{"locus":"DFNB25","gene":"GRXCR1","group":"main","inheritance":"DFNB","contribution":"gene-disease identification","pmid":"20137778","doi":"10.1016/j.ajhg.2009.12.017","title":"Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.","authors":"Schraders M, Lee K, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H.","year":2010,"journal":"American journal of human genetics","volume":"86","issue":"2","pages":"138-147","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"20137778","affiliations":["Department of Otorhinolaryngology, Head and Neck Surgery, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Head and Neck Surgery, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands."],"group_authors":["Schraders M","Huygen PL","Cremers FP","Cremers CW","Kunst HP","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB28","gene":"TRIOBP","group":"main","inheritance":"DFNB","contribution":"phenotyping","pmid":"28089734","doi":"10.1016/j.heares.2016.12.017","title":"Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.","authors":"Wesdorp M, van de Kamp JM, Hensen EF, Schraders M, Oostrik J, Yntema HG, Feenstra I, Admiraal RJC, Kunst HPM, Tekin M, Kanaan M, Kremer H, Pennings RJE.","year":2017,"journal":"Hearing research","volume":"347","issue":"","pages":"56-62","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"28089734","affiliations":["Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: mieke.wesdorp@radboudumc.nl.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: mieke.wesdorp@radboudumc.nl.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands."],"group_authors":["Wesdorp M","Schraders M","Kunst HPM","Kremer H","Pennings RJE"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB35","gene":"ESRRB","group":"main","inheritance":"DFNB","contribution":"gene-disease identification","pmid":"18179891","doi":"10.1016/j.ajhg.2007.09.008","title":"Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.","authors":"Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H.","year":2008,"journal":"American journal of human genetics","volume":"82","issue":"1","pages":"125-138","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"18179891","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands."],"group_authors":["Kalay E","Cremers CW","Cremers FP","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB48","gene":"CIB2","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"26173970","doi":"10.1038/ejhg.2015.157","title":"Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.","authors":"Seco CZ, Giese AP, Shafique S, Schraders M, Oonk AM, Grossheim M, Oostrik J, Strom T, Hegde R, van Wijk E, Frolenkov GI, Azam M, Yntema HG, Free RH, Riazuddin S, Verheij JB, Admiraal RJ, Qamar R, Ahmed ZM, Kremer H.","year":2016,"journal":"European journal of human genetics : EJHG","volume":"24","issue":"4","pages":"542-549","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"26173970","affiliations":["Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.","Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.","Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.","Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.","Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.","Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands."],"group_authors":["Schraders M","Oonk AM","van Wijk E","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB59","gene":"PJVK","group":"main","inheritance":"DFNB","contribution":"genotype-phenotype","pmid":"17373699","doi":"10.1002/humu.20510","title":"Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.","authors":"Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H.","year":2007,"journal":"Human mutation","volume":"28","issue":"7","pages":"718-723","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"17373699","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands."],"group_authors":["Kalay E","Cremers CW","Cremers FP","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB63","gene":"LRTOMT","group":"main","inheritance":"DFNB","contribution":"gene-disease identification and locus mapping","pmid":"18953341","doi":"10.1038/ng.245","title":"Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.","authors":"Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H.","year":2008,"journal":"Nature genetics","volume":"40","issue":"11","pages":"1335-1340","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"18953341","affiliations":[],"group_authors":["Kalay E","Kremer H"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[]},{"locus":"DFNB63","gene":"LRTOMT","group":"main","inheritance":"DFNB","contribution":"gene-disease identification and locus mapping","pmid":"17211611","doi":"10.1007/s00109-006-0136-3","title":"A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.","authors":"Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin RW, Heister JG, Oostrik J, Cremers CW, Brunner HG, Karaguzel A, Kremer H.","year":2007,"journal":"Journal of molecular medicine (Berlin, Germany)","volume":"85","issue":"4","pages":"397-404","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"17211611","affiliations":["Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. E.Kalay@ktu.edu.tr","Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. E.Kalay@ktu.edu.tr"],"group_authors":["Kalay E","Cremers CW","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB67","gene":"LHFPL5","group":"main","inheritance":"DFNB","contribution":"gene-disease identification","pmid":"16752389","doi":"10.1002/humu.20368","title":"Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.","authors":"Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B.","year":2006,"journal":"Human mutation","volume":"27","issue":"7","pages":"633-639","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"16752389","affiliations":["Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands."],"group_authors":["Kalay E","van Wijk E","Cremers FP","Cremers CW","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB77","gene":"LOXHD1","group":"main","inheritance":"DFNB","contribution":"phenotyping","pmid":"29676012","doi":"10.1111/cge.13368","title":"Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.","authors":"Wesdorp M, Schreur V, Beynon AJ, Oostrik J, van de Kamp JM, Elting MW, van den Boogaard MH, Feenstra I, Admiraal RJC, Kunst HPM, Hoyng CB, Kremer H, Yntema HG, Pennings RJE, Schraders M.","year":2018,"journal":"Clinical genetics","volume":"94","issue":"2","pages":"221-231","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"29676012","affiliations":["Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.","The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Cognition and Behaviour, Donders Institute for Brain, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Cognition and Behaviour, Donders Institute for Brain, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Cognition and Behaviour, Donders Institute for Brain, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Cognition and Behaviour, Donders Institute for Brain, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.","Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Cognition and Behaviour, Donders Institute for Brain, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Cognition and Behaviour, Donders Institute for Brain, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Cognition and Behaviour, Donders Institute for Brain, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Cognition and Behaviour, Donders Institute for Brain, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Cognition and Behaviour, Donders Institute for Brain, Radboud University Medical Center, Nijmegen, the Netherlands."],"group_authors":["Wesdorp M","Kunst HPM","Kremer H","Pennings RJE","Schraders M"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB79","gene":"TPRN","group":"main","inheritance":"DFNB","contribution":"gene-disease identification","pmid":"20170898","doi":"10.1016/j.ajhg.2010.02.003","title":"Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.","authors":"Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B.","year":2010,"journal":"American journal of human genetics","volume":"86","issue":"3","pages":"479-484","figures":[{"pmid":"20170898","figure":"1B","kind":"audiograms","description":"Lucht- en beengeleidingsaudiogrammen van twee personen.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2833376/"},{"pmid":"20170898","figure":"2B","kind":"longitudinal","description":"Herhaalde audiogrammen van een Nederlandse familie tonen progressie.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2833376/"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"20170898","affiliations":[],"group_authors":["Schraders M","Kremer H"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[{"figure":"2","file":"20170898_fig_02.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6659/2833376/8ff4119b4c51/gr2.jpg","article_url":"https://pubmed.ncbi.nlm.nih.gov/20170898/","license_url":null,"reuse_status":"legacy","license_name":null,"reuse_condition":null,"conversion":null,"description":"","kind":""}]},{"locus":"DFNB84A","gene":"PTPRQ","group":"main","inheritance":"DFNB","contribution":"gene-disease identification","pmid":"20346435","doi":"10.1016/j.ajhg.2010.02.015","title":"Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.","authors":"Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H.","year":2010,"journal":"American journal of human genetics","volume":"86","issue":"4","pages":"604-610","figures":[{"pmid":"20346435","figure":"4","kind":"audiograms","description":"Linkeroor-audiogrammen van aangedane personen op verschillende leeftijden.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2850434/"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"20346435","affiliations":["Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands."],"group_authors":["Schraders M","Huygen PL","van Wijk E","Kunst HP","Cremers CW","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"4","file":"20346435_fig_04.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a37/2850434/6c0e33085ebc/gr4.jpg","article_url":"https://pubmed.ncbi.nlm.nih.gov/20346435/","license_url":null,"reuse_status":"legacy","license_name":null,"reuse_condition":null,"conversion":null,"description":"","kind":""}]},{"locus":"DFNB84B","gene":"OTOGL","group":"main","inheritance":"DFNB","contribution":"gene-disease identification and phenotyping","pmid":"23122586","doi":"10.1016/j.ajhg.2012.09.011","title":"Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.","authors":"Yariz KO, Duman D, Zazo Seco C, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M.","year":2012,"journal":"American journal of human genetics","volume":"91","issue":"5","pages":"872-882","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"23122586","affiliations":[],"group_authors":["Schraders M","Oonk AM","Pennings RJ","Kremer H"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[]},{"locus":"DFNB84B","gene":"OTOGL","group":"main","inheritance":"DFNB","contribution":"gene-disease identification and phenotyping","pmid":"24378291","doi":"10.1097/aud.0000000000000008","title":"Similar phenotypes caused by mutations in OTOG and OTOGL.","authors":"Oonk AM, Leijendeckers JM, Huygen PL, Schraders M, del Campo M, del Castillo I, Tekin M, Feenstra I, Beynon AJ, Kunst HP, Snik AF, Kremer H, Admiraal RJ, Pennings RJ.","year":2014,"journal":"Ear and hearing","volume":"35","issue":"3","pages":"e84-91","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"24378291","affiliations":["1Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 4Programa de Medicina Molecular i Genètica, Hospital Vall d'Hebron, Barcelona, Spain; 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain; 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; 7Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; 8John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA; 9Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA; 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey; and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.","1Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 4Programa de Medicina Molecular i Genètica, Hospital Vall d'Hebron, Barcelona, Spain; 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain; 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; 7Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; 8John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA; 9Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA; 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey; and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands."],"group_authors":["Oonk AM","Huygen PL","Schraders M","Kunst HP","Kremer H","Pennings RJ"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB93","gene":"CABP2","group":"main","inheritance":"DFNB","contribution":"gene-disease identification","pmid":"22981119","doi":"10.1016/j.ajhg.2012.08.018","title":"A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.","authors":"Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Zazo Seco C, Oostrik J, Kremer H, Dheedene A, Claes C, Fransen E, Chaleshtori MH, Coucke P, Lee A, Moser T, Van Camp G.","year":2012,"journal":"American journal of human genetics","volume":"91","issue":"4","pages":"636-645","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"22981119","affiliations":[],"group_authors":["Kremer H"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[]},{"locus":"DFNB103","gene":"CLIC5","group":"main","inheritance":"DFNB","contribution":"gene-disease identification","pmid":"24781754","doi":"10.1038/ejhg.2014.83","title":"Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.","authors":"Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M.","year":2015,"journal":"European journal of human genetics : EJHG","volume":"23","issue":"2","pages":"189-194","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"24781754","affiliations":["1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.","1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands [2] Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.","1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands [4] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.","1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands."],"group_authors":["Oonk AM","Kunst HP","Pennings RJ","Kremer H","Schraders M"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNB111","gene":"MPZL2","group":"main","inheritance":"DFNB","contribution":"gene-disease identification","pmid":"29961571","doi":"10.1016/j.ajhg.2018.05.011","title":"MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.","authors":"Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE, DOOFNL Consortium, Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H.","year":2018,"journal":"American journal of human genetics","volume":"103","issue":"1","pages":"74-88","figures":[{"pmid":"29961571","figure":"2A","kind":"audiograms","description":"Eerste en laatste audiogrammen van het betere oor.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6037131/"},{"pmid":"29961571","figure":"2B","kind":"ARTA","description":"Cross-sectionele ARTA op basis van acht personen.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6037131/"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"29961571","affiliations":["Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Neurology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Laboratory of Medical Immunology, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Department of Ophthalmology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Neurology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Laboratory of Medical Immunology, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Ophthalmology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Institute of Health Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.","Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: hannie.kremer@radboudumc.nl."],"group_authors":["Wesdorp M","Oonk A","Schraders M","Kunst HPM","van Wijk E","Pennings RJE","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"29961571_fig_02.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4dca/6037131/91d157b2ba9b/gr2.jpg","article_url":"https://pubmed.ncbi.nlm.nih.gov/29961571/","license_url":null,"reuse_status":"legacy","license_name":null,"reuse_condition":null,"conversion":null,"description":"","kind":""}]},{"locus":"DFNA17","gene":"MYH9","group":"historical","inheritance":"DFNA","contribution":"phenotype reclassification as MYH9-related disease","pmid":"24890873","doi":"10.1111/cge.12438","title":"R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.","authors":"Verver E, Pecci A, De Rocco D, Ryhänen S, Barozzi S, Kunst H, Topsakal V, Savoia A.","year":2015,"journal":"Clinical genetics","volume":"88","issue":"1","pages":"85-89","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"24890873","affiliations":["Radboud university medical center, Donders Institute for Brain, Cognition and Behavior, Nijmegen, the Netherlands."],"group_authors":["Kunst H"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA17","gene":"MYH9","group":"historical","inheritance":"DFNA","contribution":"phenotype reclassification as MYH9-related disease","pmid":"26226608","doi":"10.1097/aud.0000000000000198","title":"Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.","authors":"Verver EJ, Topsakal V, Kunst HP, Huygen PL, Heller PG, Pujol-Moix N, Savoia A, Benazzo M, Fierro T, Grolman W, Gresele P, Pecci A.","year":2016,"journal":"Ear and hearing","volume":"37","issue":"1","pages":"112-120","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"26226608","affiliations":["1Department of Otorhinolaryngology and Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands; 2Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands; 3Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Centre, Nijmegen, The Netherlands; 4Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands; 5Department of Hematology Research, Instituto de Investigaciones Médicas Alfredo Lanari, UE IDIM-CONICET, University of Buenos Aires, Buenos Aires, Argentina; 6Institut d'Investigació Biomèdica Sant Pau, Universitat Aut∫noma de Barcelona, Barcelona, Spain; 7Institute for Maternal and Child Health, IRCCS \"Burlo Garofolo,\" and University of Trieste, Trieste, Italy; 8Department of Otorhinolaryngology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; 9Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy; and 10Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Piazzale Golgi, Pavia, Italy.","1Department of Otorhinolaryngology and Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands; 2Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands; 3Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Centre, Nijmegen, The Netherlands; 4Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands; 5Department of Hematology Research, Instituto de Investigaciones Médicas Alfredo Lanari, UE IDIM-CONICET, University of Buenos Aires, Buenos Aires, Argentina; 6Institut d'Investigació Biomèdica Sant Pau, Universitat Aut∫noma de Barcelona, Barcelona, Spain; 7Institute for Maternal and Child Health, IRCCS \"Burlo Garofolo,\" and University of Trieste, Trieste, Italy; 8Department of Otorhinolaryngology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; 9Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy; and 10Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Piazzale Golgi, Pavia, Italy."],"group_authors":["Kunst HP","Huygen PL"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNA24","gene":"unknown","group":"historical","inheritance":"DFNA","contribution":"phenotyping of historical mapped locus","pmid":"16717440","doi":"10.1159/000093525","title":"Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.","authors":"Santos RL, Häfner FM, Huygen PL, Linder TE, Schinzel AA, Spillmann T, Leal SM.","year":2006,"journal":"Audiology & neuro-otology","volume":"11","issue":"5","pages":"269-275","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"16717440","affiliations":[],"group_authors":["Huygen PL"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[]},{"locus":"DFNA31","gene":"unknown","group":"historical","inheritance":"DFNA","contribution":"historical locus mapping","pmid":"14729819","doi":"10.1136/jmg.2003.010702","title":"A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.","authors":"Snoeckx RL, Kremer H, Ensink RJ, Flothmann K, de Brouwer A, Smith RJ, Cremers CW, Van Camp G.","year":2004,"journal":"Journal of medical genetics","volume":"41","issue":"1","pages":"11-13","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"14729819","affiliations":[],"group_authors":["Kremer H","Cremers CW"],"status":"group coauthorship; full author affiliations not indexed"}],"images":[]},{"locus":"DFNA60","gene":"unknown","group":"historical","inheritance":"DFNA","contribution":"phenotyping of mapped locus without identified gene","pmid":"23538131","doi":"10.1016/j.heares.2013.03.007","title":"Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1-2q23.3.","authors":"van Beelen E, Schraders M, Huygen PL, Oostrik J, Plantinga RF, van Drunen W, Collin RW, Kooper DP, Pennings RJ, Cremers CW, Kremer H, Kunst HP.","year":2013,"journal":"Hearing research","volume":"300","issue":"","pages":"10-17","figures":[{"pmid":"23538131","figure":"4","kind":"ARTA","description":"DFNA60: ARTAs afgeleid uit sigmoïdale frequentiespecifieke leeftijdscurven; historisch locus.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1016/j.heares.2013.03.007","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"23538131","affiliations":["Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. E.vanBeelen@kno.umcn.nl","Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. E.vanBeelen@kno.umcn.nl"],"group_authors":["Schraders M","Huygen PL","Pennings RJ","Cremers CW","Kremer H","Kunst HP"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"4","file":"23538131_fig_04.png","source_url":"https://doi.org/10.1016/j.heares.2013.03.007","article_url":"https://pubmed.ncbi.nlm.nih.gov/23538131/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"DFNA60: ARTAs afgeleid uit sigmoïdale frequentiespecifieke leeftijdscurven; historisch locus.","kind":"ARTA"}]},{"locus":"USH2A","gene":"USH2A","group":"outside","inheritance":"Overig","contribution":"Usher phenotype and prospective natural history; no DFNA/DFNB label","pmid":"12544030","doi":"10.1097/00129492-200301000-00013","title":"Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.","authors":"Pennings RJ, Huygen PL, Weston MD, van Aarem A, Wagenaar M, Kimberling WJ, Cremers CW.","year":2003,"journal":"Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology","volume":"24","issue":"1","pages":"58-63","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"12544030","affiliations":["Departmentof Otorhinolaryngology, University Medical Center Radboud, Nijegen, The Netherlands. r.pennings@kno.azn.nl","Departmentof Otorhinolaryngology, University Medical Center Radboud, Nijegen, The Netherlands. r.pennings@kno.azn.nl"],"group_authors":["Pennings RJ","Huygen PL","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"USH2A","gene":"USH2A","group":"outside","inheritance":"Overig","contribution":"Usher phenotype and prospective natural history; no DFNA/DFNB label","pmid":"19129697","doi":"10.1159/000189265","title":"Audiometric characteristics of USH2a patients.","authors":"Leijendeckers JM, Pennings RJ, Snik AF, Bosman AJ, Cremers CW.","year":2009,"journal":"Audiology & neuro-otology","volume":"14","issue":"4","pages":"223-231","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"19129697","affiliations":["Department of Otorhinolaryngology/Audiology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands. j.leijendeckers@kno.umcn.nl","Department of Otorhinolaryngology/Audiology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands. j.leijendeckers@kno.umcn.nl"],"group_authors":["Pennings RJ","Cremers CW"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"USH2A","gene":"USH2A","group":"outside","inheritance":"Overig","contribution":"Usher phenotype and prospective natural history; no DFNA/DFNB label","pmid":"27318125","doi":"10.1016/j.heares.2016.06.008","title":"A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.","authors":"Hartel BP, Löfgren M, Huygen PL, Guchelaar I, Lo-A-Njoe Kort N, Sadeghi AM, van Wijk E, Tranebjærg L, Kremer H, Kimberling WJ, Cremers CW, Möller C, Pennings RJ.","year":2016,"journal":"Hearing research","volume":"339","issue":"","pages":"60-68","figures":[{"pmid":"27318125","figure":"2","kind":"ARTA","description":"USH2A: ARTAs van de totale Usher-IIa-groep (n=110); cross-sectionele regressie.","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1016/j.heares.2016.06.008","checked_at":"2026-10-21","checked_by":"Codex"},{"pmid":"27318125","figure":"3","kind":"ARTA","description":"USH2A: ARTAs per variantcategorie (2T, 2nT, 1T en homozygoot c.2299delG).","check":"Originele gebruikers-PDF en PNG-uitsnede visueel gecontroleerd; onderschrift, panelen, assen en legenda nagezien (21 oktober 2026). Hergebruiklicentie afzonderlijk, nog niet vastgesteld.","source_url":"https://doi.org/10.1016/j.heares.2016.06.008","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"27318125","affiliations":["Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: bas.hartel@radboudumc.nl.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: bas.hartel@radboudumc.nl.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands."],"group_authors":["Huygen PL","van Wijk E","Kremer H","Cremers CW","Pennings RJ"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"27318125_fig_02.png","source_url":"https://doi.org/10.1016/j.heares.2016.06.008","article_url":"https://pubmed.ncbi.nlm.nih.gov/27318125/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"USH2A: ARTAs van de totale Usher-IIa-groep (n=110); cross-sectionele regressie.","kind":"ARTA"},{"figure":"3","file":"27318125_fig_03.png","source_url":"https://doi.org/10.1016/j.heares.2016.06.008","article_url":"https://pubmed.ncbi.nlm.nih.gov/27318125/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit PDF, naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"USH2A: ARTAs per variantcategorie (2T, 2nT, 1T en homozygoot c.2299delG).","kind":"ARTA"}]},{"locus":"USH2A","gene":"USH2A","group":"outside","inheritance":"Overig","contribution":"Usher phenotype and prospective natural history; no DFNA/DFNB label","pmid":"41729786","doi":"10.1097/mao.0000000000004851","title":"From Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A.","authors":"Wijn DH, Fehrmann MLA, Robijn SMM, Velde HM, Smits JJ, van Wijk E, Beynon AJ, Cals FLJ, Hoyng CB, Yzer S, Lanting CP, Pennings RJE.","year":2026,"journal":"Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology","volume":"47","issue":"4","pages":"549-555","figures":[{"pmid":"41729786","figure":"2","kind":"regression","description":"Gehoordrempels als functie van leeftijd in de prospectieve CRUSH-context.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12970546/"},{"pmid":"41729786","figure":"3","kind":"ARTA","description":"Usher2A-ARTAs, buiten de DFNA/DFNB-telling.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12970546/"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"41729786","affiliations":["Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.","Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands."],"group_authors":["van Wijk E","Lanting CP","Pennings RJE"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"3","file":"41729786_fig_03.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c16/12970546/417a06bd2dcd/mao-47-549-g003.jpg","article_url":"https://pubmed.ncbi.nlm.nih.gov/41729786/","license_url":null,"reuse_status":"legacy","license_name":null,"reuse_condition":null,"conversion":null,"description":"","kind":""}]},{"locus":"DFNX2","gene":"POU3F4","group":"outside","inheritance":"DFNX","contribution":"X-linked gene-disease identification","pmid":"7839145","doi":"10.1126/science.7839145","title":"Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.","authors":"de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP.","year":1995,"journal":"Science (New York, N.Y.)","volume":"267","issue":"5198","pages":"685-688","figures":[],"figure_status":"Nog niet gecontroleerd","nijmegen_evidence":[{"pmid":"7839145","affiliations":["Department of Human Genetics, University Hospital Nijmegen, Netherlands.","Department of Human Genetics, University Hospital Nijmegen, Netherlands."],"group_authors":["Cremers FP"],"status":"bibliographic affiliation verified"}],"images":[]},{"locus":"DFNX4","gene":"SMPX","group":"outside","inheritance":"DFNX","contribution":"X-linked gene-disease identification","pmid":"21549342","doi":"10.1016/j.ajhg.2011.04.012","title":"Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.","authors":"Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H.","year":2011,"journal":"American journal of human genetics","volume":"88","issue":"5","pages":"628-634","figures":[{"pmid":"21549342","figure":"2","kind":"audiograms","description":"Leeftijdsgerelateerde en herhaalde audiogrammen bij SMPX, buiten DFNA/DFNB-telling.","check":"caption/full-text checked; image inspection only when listed in image_sources.json","source_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3146715/"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"21549342","affiliations":["Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands."],"group_authors":["Schraders M","Huygen PL","Pennings RJ","Kunst HP","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"2","file":"21549342_fig_02.png","source_url":"https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9568/3146715/c76038b39250/gr2.jpg","article_url":"https://pubmed.ncbi.nlm.nih.gov/21549342/","license_url":null,"reuse_status":"legacy","license_name":null,"reuse_condition":null,"conversion":null,"description":"","kind":""}]},{"locus":"unassigned","gene":"IKZF2","group":"outside","inheritance":"Overig","contribution":"candidate/expanding gene-disease association; no assigned DFNA/DFNB label","pmid":"39406892","doi":"10.1007/s00439-024-02706-w","title":"Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.","authors":"Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE, DOOFNL Consortium, Pennings RJE, Kremer H.","year":2024,"journal":"Human genetics","volume":"143","issue":"11","pages":"1379-1399","figures":[{"pmid":"39406892","figure":"4","kind":"ARTA","description":"IKZF2: tien individuele audiogrammen en in het laatste paneel een cross-sectionele ARTA. Geen toegewezen DFNA/DFNB-locus; aanvullende selectie.","check":"Originele PDF, onderschrift en figuuruitsnede visueel gecontroleerd; hergebruikstatus afzonderlijk vastgelegd.","source_url":"https://doi.org/10.1007/s00439-024-02706-w","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"39406892","affiliations":["Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Medical Biosciences, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Center for Molecular and Biomolecular Informatics, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.","Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl."],"group_authors":["Wesdorp M","Lanting CP","Pennings RJE","Kremer H"],"status":"bibliographic affiliation verified"}],"images":[{"figure":"4","file":"39406892_fig_04.png","source_url":"https://doi.org/10.1007/s00439-024-02706-w","article_url":"https://pubmed.ncbi.nlm.nih.gov/39406892/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Figuuruitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"IKZF2: tien individuele audiogrammen en in het laatste paneel een cross-sectionele ARTA. Geen toegewezen DFNA/DFNB-locus; aanvullende selectie.","kind":"ARTA"}]},{"locus":"DFNA9","gene":"COCH","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"33710989","doi":"10.1097/mao.0000000000003004","title":"A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.","authors":"Smits JJ, van Beelen E, Weegerink NJD, Oostrik J, Huygen PLM, Beynon AJ, Lanting CP, Kunst HPM, Schraders M, Kremer H, de Vrieze E, Pennings RJE.","year":2021,"journal":"Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology","volume":"42","issue":"4","pages":"e399-e407","figures":[{"pmid":"33710989","figure":"3","kind":"ARTA","description":"COCH/DFNA9 p.Arg438Cys: ARTA afgeleid uit cross-sectionele regressie van last-visit-audiogrammen.","check":"Originele PDF, onderschrift en figuuruitsnede visueel gecontroleerd; hergebruikstatus afzonderlijk vastgelegd.","source_url":"https://doi.org/10.1097/mao.0000000000003004","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"33710989","affiliations":["Radboud Institute for Health Sciences.","Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands."],"group_authors":[],"status":"bibliographic affiliation verified"}],"images":[{"figure":"3","file":"33710989_fig_03.png","source_url":"https://doi.org/10.1097/mao.0000000000003004","article_url":"https://pubmed.ncbi.nlm.nih.gov/33710989/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Figuuruitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"COCH/DFNA9 p.Arg438Cys: ARTA afgeleid uit cross-sectionele regressie van last-visit-audiogrammen.","kind":"ARTA"}]},{"locus":"Usher IV","gene":"ARSG","group":"outside","inheritance":"Overig","contribution":"syndromic genotype-phenotype","pmid":"35226187","doi":"10.1007/s00439-022-02441-0","title":"Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.","authors":"Velde HM, Reurink J, Held S, Li CHZ, Yzer S, Oostrik J, Weeda J, Haer-Wigman L, Yntema HG, Roosing S, Pauleikhoff L, Lange C, Whelan L, Dockery A, Zhu J, Keegan DJ, Farrar GJ, Kremer H, Lanting CP, Damme M, Pennings RJE.","year":2022,"journal":"Human genetics","volume":"141","issue":"11","pages":"1723-1738","figures":[{"pmid":"35226187","figure":"1","kind":"ARTA","description":"ARSG/Usher IV: paneel A ARTAs vergeleken met andere Ushertypen; B en C tonen afzonderlijke analyses van het begin van gehoorverlies.","check":"Originele PDF, onderschrift en figuuruitsnede visueel gecontroleerd; hergebruikstatus afzonderlijk vastgelegd.","source_url":"https://doi.org/10.1007/s00439-022-02441-0","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"35226187","affiliations":["Hearing and Genes, Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.","Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.","Department of Ophthalmology, Radboudumc, Nijmegen, The Netherlands.","Hearing and Genes, Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands. Ronald.Pennings@radboudumc.nl.","Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands. Ronald.Pennings@radboudumc.nl."],"group_authors":[],"status":"bibliographic affiliation verified"}],"images":[{"figure":"1","file":"35226187_fig_01.png","source_url":"https://doi.org/10.1007/s00439-022-02441-0","article_url":"https://pubmed.ncbi.nlm.nih.gov/35226187/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Figuuruitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"ARSG/Usher IV: paneel A ARTAs vergeleken met andere Ushertypen; B en C tonen afzonderlijke analyses van het begin van gehoorverlies.","kind":"ARTA"}]},{"locus":"Vergelijkend (8 groepen)","gene":"Meerdere genen","group":"outside","inheritance":"Overig","contribution":"comparative suprathreshold auditory function","pmid":"36360160","doi":"10.3390/genes13111923","title":"Genetic Hearing Loss Affects Cochlear Processing.","authors":"Lanting C, Snik A, Leijendeckers J, Bosman A, Pennings R.","year":2022,"journal":"Genes","volume":"13","issue":"11","pages":"1923","figures":[{"pmid":"36360160","figure":"1","kind":"mean","description":"Vergelijking van acht genetische groepen: gemiddelde audiogrammen en 95%-betrouwbaarheidsintervallen; geen ARTAs.","check":"Originele PDF, onderschrift en figuuruitsnede visueel gecontroleerd; hergebruikstatus afzonderlijk vastgelegd.","source_url":"https://doi.org/10.3390/genes13111923","checked_at":"2026-10-21","checked_by":"Codex"},{"pmid":"36360160","figure":"2","kind":"speech-in-noise","description":"Cochlear distortion factor (CDF) per genetische patiëntengroep; functionele spraak-in-ruismaat, geen gehoordrempel-ARTA.","check":"Originele PDF, onderschrift en figuuruitsnede visueel gecontroleerd; hergebruikstatus afzonderlijk vastgelegd.","source_url":"https://doi.org/10.3390/genes13111923","checked_at":"2026-10-21","checked_by":"Codex"},{"pmid":"36360160","figure":"3","kind":"speech-in-noise","description":"Relatie tussen CDF en PTA per genetische groep, met regressielijn; functionele vergelijking, geen ARTA.","check":"Originele PDF, onderschrift en figuuruitsnede visueel gecontroleerd; hergebruikstatus afzonderlijk vastgelegd.","source_url":"https://doi.org/10.3390/genes13111923","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"36360160","affiliations":["Department of Otorhinolaryngology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Postbus 9101, 6500 HB Nijmegen, The Netherlands."],"group_authors":[],"status":"bibliographic affiliation verified"}],"images":[{"figure":"1","file":"36360160_fig_01.png","source_url":"https://doi.org/10.3390/genes13111923","article_url":"https://pubmed.ncbi.nlm.nih.gov/36360160/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Figuuruitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"Vergelijking van acht genetische groepen: gemiddelde audiogrammen en 95%-betrouwbaarheidsintervallen; geen ARTAs.","kind":"mean"},{"figure":"2","file":"36360160_fig_02.png","source_url":"https://doi.org/10.3390/genes13111923","article_url":"https://pubmed.ncbi.nlm.nih.gov/36360160/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Figuuruitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"Cochlear distortion factor (CDF) per genetische patiëntengroep; functionele spraak-in-ruismaat, geen gehoordrempel-ARTA.","kind":"speech-in-noise"},{"figure":"3","file":"36360160_fig_03.png","source_url":"https://doi.org/10.3390/genes13111923","article_url":"https://pubmed.ncbi.nlm.nih.gov/36360160/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Figuuruitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"Relatie tussen CDF en PTA per genetische groep, met regressielijn; functionele vergelijking, geen ARTA.","kind":"speech-in-noise"}]},{"locus":"DFNA68","gene":"HOMER2","group":"main","inheritance":"DFNA","contribution":"gene-disease identification and phenotyping","pmid":"25816005","doi":"10.1371/journal.pgen.1005137","title":"HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.","authors":"Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ.","year":2015,"journal":"PLoS genetics","volume":"11","issue":"3","pages":"e1005137","figures":[{"pmid":"25816005","figure":"1B","kind":"ARTA","description":"HOMER2/DFNA68: paneel B van figuur 1 toont de humane cross-sectionele ARTA van 10–70 jaar; dierexperimentele panelen niet als humaan fenotype opgenomen.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1371/journal.pgen.1005137","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"25816005","status":"bibliographic affiliation verified","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands."],"group_authors":["Huygen PL"]}],"images":[{"figure":"1B","file":"25816005_fig_01.png","source_url":"https://doi.org/10.1371/journal.pgen.1005137","article_url":"https://pubmed.ncbi.nlm.nih.gov/25816005/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"HOMER2/DFNA68: paneel B van figuur 1 toont de humane cross-sectionele ARTA van 10–70 jaar; dierexperimentele panelen niet als humaan fenotype opgenomen.","kind":"ARTA"}]},{"locus":"DFNA9","gene":"COCH","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"17561763","doi":"10.1177/000348940711600506","title":"Phenotype description of a novel DFNA9/COCH mutation, I109T.","authors":"Pauw RJ, Huygen PL, Collin RW, Cruysberg JR, Hoefsloot LH, Kremer H, Cremers CW.","year":2007,"journal":"The Annals of otology, rhinology, and laryngology","volume":"116","issue":"5","pages":"349-357","figures":[{"pmid":"17561763","figure":"5","kind":"ARTA","description":"COCH/DFNA9 p.Ile109Thr: ARTA van de huidige familie, met P51S- en G88E-families ter vergelijking.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1177/000348940711600506","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"17561763","status":"bibliographic affiliation verified","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands."],"group_authors":["Pauw RJ"]}],"images":[{"figure":"5","file":"17561763_fig_05.png","source_url":"https://doi.org/10.1177/000348940711600506","article_url":"https://pubmed.ncbi.nlm.nih.gov/17561763/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"COCH/DFNA9 p.Ile109Thr: ARTA van de huidige familie, met P51S- en G88E-families ter vergelijking.","kind":"ARTA"}]},{"locus":"DFNA9","gene":"COCH","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"21774451","doi":"10.1177/000348941112000612","title":"Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.","authors":"Pauw RJ, Huygen PL, Colditz GM, Cremers CW.","year":2011,"journal":"The Annals of otology, rhinology, and laryngology","volume":"120","issue":"6","pages":"414-421","figures":[{"pmid":"21774451","figure":"4","kind":"ARTA","description":"COCH/DFNA9 p.Ile109Asn: ARTAs met vergelijking van verschillende COCH-varianten. PubMed-titel schrijft 1109N; origineel vermeldt I109N.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1177/000348941112000612","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"21774451","status":"bibliographic affiliation verified","affiliations":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands."],"group_authors":["Pauw RJ"]}],"images":[{"figure":"4","file":"21774451_fig_04.png","source_url":"https://doi.org/10.1177/000348941112000612","article_url":"https://pubmed.ncbi.nlm.nih.gov/21774451/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"COCH/DFNA9 p.Ile109Asn: ARTAs met vergelijking van verschillende COCH-varianten. PubMed-titel schrijft 1109N; origineel vermeldt I109N.","kind":"ARTA"}]},{"locus":"DFNA9","gene":"COCH","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"16151339","doi":"10.1097/01.mao.0000185062.12458.87","title":"Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.","authors":"Kemperman MH, De Leenheer EM, Huygen PL, van Duijnhoven G, Morton CC, Robertson NG, Cremers FP, Kremer H, Cremers CW.","year":2005,"journal":"Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology","volume":"26","issue":"5","pages":"926-933","figures":[{"pmid":"16151339","figure":"2","kind":"ARTA","description":"COCH/DFNA9 G88E: frequentiespecifieke sigmoïdale leeftijdscurven en onderaan ARTAs voor G88E en P51S; gemengde cross-sectionele en longitudinale gegevens.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1097/01.mao.0000185062.12458.87","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"16151339","status":"bibliographic affiliation verified","affiliations":["Otorhinolaryngology, Radboud University Medical Center Nijmegen, Nijmegen, The Netherlands. M.Kemperman@kno.umcn.nl"],"group_authors":["Kemperman MH"]}],"images":[{"figure":"2","file":"16151339_fig_02.png","source_url":"https://doi.org/10.1097/01.mao.0000185062.12458.87","article_url":"https://pubmed.ncbi.nlm.nih.gov/16151339/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"COCH/DFNA9 G88E: frequentiespecifieke sigmoïdale leeftijdscurven en onderaan ARTAs voor G88E en P51S; gemengde cross-sectionele en longitudinale gegevens.","kind":"ARTA"}]},{"locus":"DFNX4","gene":"SMPX","group":"outside","inheritance":"DFNX","contribution":"genotype-phenotype","pmid":"21893181","doi":"10.1016/j.heares.2011.08.010","title":"Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.","authors":"Weegerink NJ, Huygen PL, Schraders M, Kremer H, Pennings RJ, Kunst HP.","year":2011,"journal":"Hearing research","volume":"282","issue":"1-2","pages":"167-177","figures":[{"pmid":"21893181","figure":"5","kind":"ARTA","description":"SMPX/DFNX4: afzonderlijke cross-sectionele ARTAs voor mannen (niet-lineaire fit, a) en vrouwen (lineaire fit, b).","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1016/j.heares.2011.08.010","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"ARTA","nijmegen_evidence":[{"pmid":"21893181","status":"bibliographic affiliation verified","affiliations":["Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. N.Weegerink@kno.umcn.nl"],"group_authors":["Weegerink NJ"]}],"images":[{"figure":"5","file":"21893181_fig_05.png","source_url":"https://doi.org/10.1016/j.heares.2011.08.010","article_url":"https://pubmed.ncbi.nlm.nih.gov/21893181/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"SMPX/DFNX4: afzonderlijke cross-sectionele ARTAs voor mannen (niet-lineaire fit, a) en vrouwen (lineaire fit, b).","kind":"ARTA"}]},{"locus":"DFNA8/12","gene":"TECTA","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"21520338","doi":"10.1002/humu.21512","title":"DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.","authors":"Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA.","year":2011,"journal":"Human mutation","volume":"32","issue":"7","pages":"825-834","figures":[{"pmid":"21520338","figure":"2","kind":"audiograms","description":"TECTA/DFNA8/12: familiegegevens met audiogrammen rechts in panelen A en B; paneel C toont oto-akoestische emissies. Geen ARTA.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1002/humu.21512","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"21520338","status":"bibliographic affiliation verified","affiliations":[],"group_authors":[]}],"images":[{"figure":"2","file":"21520338_fig_02.png","source_url":"https://doi.org/10.1002/humu.21512","article_url":"https://pubmed.ncbi.nlm.nih.gov/21520338/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"TECTA/DFNA8/12: familiegegevens met audiogrammen rechts in panelen A en B; paneel C toont oto-akoestische emissies. Geen ARTA.","kind":"audiograms"}]},{"locus":"DFNA2A","gene":"KCNQ4","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"11556850","doi":"10.1001/archotol.127.9.1045","title":"Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.","authors":"Bom SJ, De Leenheer EM, Lemaire FX, Kemperman MH, Verhagen WI, Marres HA, Kunst HP, Ensink RJ, Bosman AJ, Van Camp G, Cremers FP, Huygen PL, Cremers CW.","year":2001,"journal":"Archives of otolaryngology--head & neck surgery","volume":"127","issue":"9","pages":"1045-1048","figures":[{"pmid":"11556850","figure":"ongenum.","kind":"speech-audiometry","description":"KCNQ4/DFNA2 en COCH/DFNA9: spraakherkenning versus leeftijd (A/B) en PTA (C). Het artikel bevat één ongenummerde figuur; 01 is alleen het interne bestandsnummer.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1001/archotol.127.9.1045","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Functionele uitkomst","nijmegen_evidence":[{"pmid":"11556850","status":"bibliographic affiliation verified","affiliations":["Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, the Netherlands. S.Bom@kno.azn.nl"],"group_authors":["Bom SJ"]}],"images":[{"figure":"ongenum.","file":"11556850_fig_01.png","source_url":"https://doi.org/10.1001/archotol.127.9.1045","article_url":"https://pubmed.ncbi.nlm.nih.gov/11556850/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"KCNQ4/DFNA2 en COCH/DFNA9: spraakherkenning versus leeftijd (A/B) en PTA (C). Het artikel bevat één ongenummerde figuur; 01 is alleen het interne bestandsnummer.","kind":"speech-audiometry"}]},{"locus":"DFNA9","gene":"COCH","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"11556850","doi":"10.1001/archotol.127.9.1045","title":"Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.","authors":"Bom SJ, De Leenheer EM, Lemaire FX, Kemperman MH, Verhagen WI, Marres HA, Kunst HP, Ensink RJ, Bosman AJ, Van Camp G, Cremers FP, Huygen PL, Cremers CW.","year":2001,"journal":"Archives of otolaryngology--head & neck surgery","volume":"127","issue":"9","pages":"1045-1048","figures":[{"pmid":"11556850","figure":"ongenum.","kind":"speech-audiometry","description":"KCNQ4/DFNA2 en COCH/DFNA9: spraakherkenning versus leeftijd (A/B) en PTA (C). Het artikel bevat één ongenummerde figuur; 01 is alleen het interne bestandsnummer.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1001/archotol.127.9.1045","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Functionele uitkomst","nijmegen_evidence":[{"pmid":"11556850","status":"bibliographic affiliation verified","affiliations":["Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, the Netherlands. S.Bom@kno.azn.nl"],"group_authors":["Bom SJ"]}],"images":[{"figure":"ongenum.","file":"11556850_fig_01.png","source_url":"https://doi.org/10.1001/archotol.127.9.1045","article_url":"https://pubmed.ncbi.nlm.nih.gov/11556850/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"KCNQ4/DFNA2 en COCH/DFNA9: spraakherkenning versus leeftijd (A/B) en PTA (C). Het artikel bevat één ongenummerde figuur; 01 is alleen het interne bestandsnummer.","kind":"speech-audiometry"}]},{"locus":"DFNA5","gene":"GSDME","group":"main","inheritance":"DFNA","contribution":"genotype-phenotype","pmid":"12126021","doi":"10.1177/000348940211100712","title":"Further delineation of the DFNA5 phenotype: results of speech recognition tests.","authors":"De Leenheer EM, van Zuijlen DA, Van Laer L, Van Camp G, Huygen PL, Huizing EH, Cremers CW.","year":2002,"journal":"The Annals of otology, rhinology, and laryngology","volume":"111","issue":"7 Pt 1","pages":"639-641","figures":[{"pmid":"12126021","figure":"1","kind":"speech-audiometry","description":"GSDME/DFNA5: cross-sectionele spraakherkenning versus leeftijd (A) en PTA (B). Geen ARTA.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1177/000348940211100712","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Functionele uitkomst","nijmegen_evidence":[{"pmid":"12126021","status":"bibliographic affiliation verified","affiliations":[],"group_authors":[]}],"images":[{"figure":"1","file":"12126021_fig_01.png","source_url":"https://doi.org/10.1177/000348940211100712","article_url":"https://pubmed.ncbi.nlm.nih.gov/12126021/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"GSDME/DFNA5: cross-sectionele spraakherkenning versus leeftijd (A) en PTA (B). Geen ARTA.","kind":"speech-audiometry"}]},{"locus":"Stickler (niet-oculair)","gene":"COL11A2","group":"outside","inheritance":"Overig","contribution":"genotype-phenotype","pmid":"22796475","doi":"10.1016/j.heares.2012.07.001","title":"Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).","authors":"van Beelen E, Leijendeckers JM, Huygen PL, Admiraal RJ, Hoefsloot LH, Lichtenbelt KD, Stöbe L, Pennings RJ, Leuwer R, Snik AF, Kunst HP.","year":2012,"journal":"Hearing research","volume":"291","issue":"1-2","pages":"15-23","figures":[{"pmid":"22796475","figure":"3","kind":"audiograms","description":"COL11A2, niet-oculair Stickler: audiogrammen van tien patiënten uit twee families; syndromale context, geen DFNA13-ARTA.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1016/j.heares.2012.07.001","checked_at":"2026-10-21","checked_by":"Codex"},{"pmid":"22796475","figure":"5","kind":"mean","description":"COL11A2, niet-oculair Stickler: gemiddelde gehoordrempels met standaarddeviatie voor beide families; geen ARTAs.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1016/j.heares.2012.07.001","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Drempelgrafiek","nijmegen_evidence":[{"pmid":"22796475","status":"bibliographic affiliation verified","affiliations":["Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. E.vanBeelen@kno.umcn.nl"],"group_authors":["van Beelen E"]}],"images":[{"figure":"3","file":"22796475_fig_03.png","source_url":"https://doi.org/10.1016/j.heares.2012.07.001","article_url":"https://pubmed.ncbi.nlm.nih.gov/22796475/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"COL11A2, niet-oculair Stickler: audiogrammen van tien patiënten uit twee families; syndromale context, geen DFNA13-ARTA.","kind":"audiograms"},{"figure":"5","file":"22796475_fig_05.png","source_url":"https://doi.org/10.1016/j.heares.2012.07.001","article_url":"https://pubmed.ncbi.nlm.nih.gov/22796475/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"COL11A2, niet-oculair Stickler: gemiddelde gehoordrempels met standaarddeviatie voor beide families; geen ARTAs.","kind":"mean"}]},{"locus":"DFNA9","gene":"COCH","group":"main","inheritance":"DFNA","contribution":"treatment outcomes","pmid":"42259506","doi":"10.1097/mao.0000000000004969","title":"Performance Results and Timing of Cochlear Implantation in Patients With DFNA9 (p.Pro51Ser).","authors":"Robijn SMM, van Nierop JWI, Huinck WJ, Mylanus EAM, Kunst HPM, Lanting CP, Pennings RJE.","year":2026,"journal":"Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology","volume":"47","issue":"9","pages":"e1072-e1079","figures":[{"pmid":"42259506","figure":"1","kind":"CI-outcome","description":"COCH/DFNA9 p.Pro51Ser: pre- en postoperatieve aided fonemenscores, vergeleken met controles; CI-uitkomst, geen natuurlijk-beloop-ARTA.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1097/mao.0000000000004969","checked_at":"2026-10-21","checked_by":"Codex"},{"pmid":"42259506","figure":"4","kind":"CI-outcome","description":"COCH/DFNA9: geschatte spraakverstaansscores na implantatie over de tijd (gemengd model, 95%-BI); behandeluitkomst.","check":"Originele PDF en PNG-uitsnede visueel gecontroleerd; panelen, assen en legenda nagezien. Hergebruikstatus afzonderlijk.","source_url":"https://doi.org/10.1097/mao.0000000000004969","checked_at":"2026-10-21","checked_by":"Codex"}],"figure_status":"Functionele uitkomst","nijmegen_evidence":[{"pmid":"42259506","status":"bibliographic affiliation verified","affiliations":["Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.","Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands."],"group_authors":["Robijn SMM","van Nierop JWI","Huinck WJ","Mylanus EAM","Kunst HPM","Lanting CP","Pennings RJE"]}],"images":[{"figure":"1","file":"42259506_fig_01.png","source_url":"https://doi.org/10.1097/mao.0000000000004969","article_url":"https://pubmed.ncbi.nlm.nih.gov/42259506/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"COCH/DFNA9 p.Pro51Ser: pre- en postoperatieve aided fonemenscores, vergeleken met controles; CI-uitkomst, geen natuurlijk-beloop-ARTA.","kind":"CI-outcome"},{"figure":"4","file":"42259506_fig_04.png","source_url":"https://doi.org/10.1097/mao.0000000000004969","article_url":"https://pubmed.ncbi.nlm.nih.gov/42259506/","license_url":null,"reuse_status":"not_documented","license_name":"Hergebruik niet vastgesteld","reuse_condition":null,"conversion":"Uitsnede uit gebruikers-PDF naar PNG gerenderd; grafiekinhoud ongewijzigd.","description":"COCH/DFNA9: geschatte spraakverstaansscores na implantatie over de tijd (gemengd model, 95%-BI); behandeluitkomst.","kind":"CI-outcome"}]}],"asset_version":"cd77c8773506"}
