# Referenties

## Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2.
Marres H, van Ewijk M, Huygen P, Kunst H, van Camp G, Coucke P, Willems P, Cremers C.
Archives of otolaryngology--head & neck surgery (1997). https://doi.org/10.1001/archotol.1997.01900060015002 · https://pubmed.ncbi.nlm.nih.gov/9193215/

## Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.
De Leenheer EM, Huygen PL, Coucke PJ, Admiraal RJ, van Camp G, Cremers CW.
The Annals of otology, rhinology, and laryngology (2002). https://doi.org/10.1177/000348940211100312 · https://pubmed.ncbi.nlm.nih.gov/11915881/

## Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.
de Heer AM, Schraders M, Oostrik J, Hoefsloot L, Huygen PL, Cremers CW.
The Annals of otology, rhinology, and laryngology (2011). https://doi.org/10.1177/000348941112000405 · https://pubmed.ncbi.nlm.nih.gov/21585154/

## Phenotypes of two Dutch DFNA3 families with mutations in GJB2.
Weegerink NJ, Pennings RJ, Huygen PL, Hoefsloot LH, Cremers CW, Kunst HP.
The Annals of otology, rhinology, and laryngology (2011). https://doi.org/10.1177/000348941112000308 · https://pubmed.ncbi.nlm.nih.gov/21510145/

## A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.
Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H.
Audiology & neuro-otology (2004). https://doi.org/10.1159/000074185 · https://pubmed.ncbi.nlm.nih.gov/14676472/

## Clinical features of DFNA5.
De Leenheer EM, van Zuijlen DA, Van Laer L, Van Camp G, Huygen PL, Huizing EH, Cremers CW.
Advances in oto-rhino-laryngology (2002). https://doi.org/10.1159/000066800 · https://pubmed.ncbi.nlm.nih.gov/12408063/

## 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.
Kunst H, Marres H, Huygen P, Van Camp G, Joosten F, Cremers C.
Audiology : official organ of the International Society of Audiology (1999). https://doi.org/10.3109/00206099909073018 · https://pubmed.ncbi.nlm.nih.gov/10437687/

## Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).
Pennings RJ, Bom SJ, Cryns K, Flothmann K, Huygen PL, Kremer H, Van Camp G, Cremers CW.
Archives of otolaryngology--head & neck surgery (2003). https://doi.org/10.1001/archotol.129.4.421 · https://pubmed.ncbi.nlm.nih.gov/12707188/

## Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.
Velde HM, Huizenga XJJ, Yntema HG, Haer-Wigman L, Beynon AJ, Oostrik J, Pegge SAH, Kremer H, Lanting CP, Pennings RJE.
Genes (2023). https://doi.org/10.3390/genes14020457 · https://pubmed.ncbi.nlm.nih.gov/36833385/

## Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
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.
Human genetics (2018). https://doi.org/10.1007/s00439-018-1880-5 · https://pubmed.ncbi.nlm.nih.gov/29754270/

## A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.
Plantinga RF, de Brouwer AP, Huygen PL, Kunst HP, Kremer H, Cremers CW.
Journal of the Association for Research in Otolaryngology : JARO (2006). https://doi.org/10.1007/s10162-006-0033-z · https://pubmed.ncbi.nlm.nih.gov/16718611/

## Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family.
Plantinga RF, Cremers CW, Huygen PL, Kunst HP, Bosman AJ.
Journal of the Association for Research in Otolaryngology : JARO (2007). https://doi.org/10.1007/s10162-006-0060-9 · https://pubmed.ncbi.nlm.nih.gov/17136632/

## 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.
de Heer AR, Pauw RJ, Huygen PL, Collin RW, Kremer H, Cremers CW.
Audiology & neuro-otology (2009). https://doi.org/10.1159/000171477 · https://pubmed.ncbi.nlm.nih.gov/19005249/

## Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.
Collin RW, de Heer AM, Oostrik J, Pauw RJ, Plantinga RF, Huygen PL, Admiraal R, de Brouwer AP, Strom TM, Cremers CW, Kremer H.
European journal of human genetics : EJHG (2008). https://doi.org/10.1038/ejhg.2008.110 · https://pubmed.ncbi.nlm.nih.gov/18575463/

## A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
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.
Human molecular genetics (1999). https://doi.org/10.1093/hmg/8.2.361 · https://pubmed.ncbi.nlm.nih.gov/9931344/

## Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH.
Bom SJ, Kemperman MH, Huygen PL, Luijendijk MW, Cremers CW.
The Annals of otology, rhinology, and laryngology (2003). https://doi.org/10.1177/000348940311200316 · https://pubmed.ncbi.nlm.nih.gov/12656423/

## Genotype-Phenotype Correlations of Pathogenic <i>COCH</i> Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.
Robijn SMM, Smits JJ, Sezer K, Huygen PLM, Beynon AJ, van Wijk E, Kremer H, de Vrieze E, Lanting CP, Pennings RJE.
Biomolecules (2022). https://doi.org/10.3390/biom12020220 · https://pubmed.ncbi.nlm.nih.gov/35204720/

## 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.
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.
Scientific reports (2024). https://doi.org/10.1038/s41598-023-50583-6 · https://pubmed.ncbi.nlm.nih.gov/38167558/

## The DFNA10 phenotype.
De Leenheer EM, Huygen PL, Wayne S, Smith RJ, Cremers CW.
The Annals of otology, rhinology, and laryngology (2001). https://doi.org/10.1177/000348940111000910 · https://pubmed.ncbi.nlm.nih.gov/11558763/

## Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.
van Beelen E, Oonk AM, Leijendeckers JM, Hoefsloot EH, Pennings RJ, Feenstra I, Dieker HJ, Huygen PL, Snik AF, Kremer H, Kunst HP.
Ear and hearing (2016). https://doi.org/10.1097/aud.0000000000000217 · https://pubmed.ncbi.nlm.nih.gov/26331839/

## Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
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.
Scientific reports (2020). https://doi.org/10.1038/s41598-020-63256-5 · https://pubmed.ncbi.nlm.nih.gov/32277154/

## Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H.
Human genetics (2004). https://doi.org/10.1007/s00439-004-1137-3 · https://pubmed.ncbi.nlm.nih.gov/15221449/

## Cochleovestibular and ocular features in a Dutch DFNA11 family.
Bischoff AM, Pennings RJ, Huygen PL, Luijendijk MW, van Wijk E, Cruysberg JR, Kremer H, Cremers CW.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology (2006). https://doi.org/10.1097/00129492-200604000-00006 · https://pubmed.ncbi.nlm.nih.gov/16639269/

## Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
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.
Nature genetics (1999). https://doi.org/10.1038/70516 · https://pubmed.ncbi.nlm.nih.gov/10581026/

## The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.
Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C.
The American journal of otology (2000). https://doi.org/10.1016/s0196-0709(00)80006-x · https://pubmed.ncbi.nlm.nih.gov/10733181/

## Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family.
De Leenheer EM, Bosman AJ, Kunst HP, Huygen PL, Cremers CW.
The Annals of otology, rhinology, and laryngology (2004). https://doi.org/10.1177/000348940411301112 · https://pubmed.ncbi.nlm.nih.gov/15562903/

## Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.
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.
Human mutation (2008). https://doi.org/10.1002/humu.20693 · https://pubmed.ncbi.nlm.nih.gov/18228599/

## Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.
Pauw RJ, van Drunen FJ, Collin RW, Huygen PL, Kremer H, Cremers CW.
Archives of otolaryngology--head & neck surgery (2008). https://doi.org/10.1001/archotol.134.3.294 · https://pubmed.ncbi.nlm.nih.gov/18347256/

## Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.
de Heer AM, Huygen PL, Collin RW, Kremer H, Cremers CW.
The Annals of otology, rhinology, and laryngology (2009). https://doi.org/10.1177/000348940911800413 · https://pubmed.ncbi.nlm.nih.gov/19462854/

## A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
van Wijk E, Krieger E, Kemperman MH, De Leenheer EM, Huygen PL, Cremers CW, Cremers FP, Kremer H.
Journal of medical genetics (2003). https://doi.org/10.1136/jmg.40.12.879 · https://pubmed.ncbi.nlm.nih.gov/14684684/

## A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.
Kemperman MH, De Leenheer EM, Huygen PL, van Wijk E, van Duijnhoven G, Cremers FP, Kremer H, Cremers CW.
Archives of otolaryngology--head & neck surgery (2004). https://doi.org/10.1001/archotol.130.3.281 · https://pubmed.ncbi.nlm.nih.gov/15023833/

## Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.
de Heer AM, Huygen PL, Collin RW, Oostrik J, Kremer H, Cremers CW.
The Annals of otology, rhinology, and laryngology (2009). https://doi.org/10.1177/000348940911800511 · https://pubmed.ncbi.nlm.nih.gov/19548389/

## Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21).
Kunst H, Marres H, Huygen P, van Duijnhoven G, Krebsova A, van der Velde S, Reis A, Cremers F, Cremers C.
Clinical otolaryngology and allied sciences (2000). https://doi.org/10.1046/j.1365-2273.2000.00327.x · https://pubmed.ncbi.nlm.nih.gov/10764236/

## A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
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.
Journal of medical genetics (2020). https://doi.org/10.1136/jmedgenet-2020-106863 · https://pubmed.ncbi.nlm.nih.gov/32631815/

## 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.
Velde HM, Homans NC, Goedegebure A, Lanting CP, Pennings RJE, Kremer H.
Journal of medical genetics (2023). https://doi.org/10.1136/jmg-2023-109146 · https://pubmed.ncbi.nlm.nih.gov/37164627/

## Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis.
Oonk AM, Leijendeckers JM, Lammers EM, Weegerink NJ, Oostrik J, Beynon AJ, Huygen PL, Kunst HP, Kremer H, Snik AF, Pennings RJ.
Hearing research (2013). https://doi.org/10.1016/j.heares.2012.12.015 · https://pubmed.ncbi.nlm.nih.gov/23340379/

## Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
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.
Genetics in medicine : official journal of the American College of Medical Genetics (2019). https://doi.org/10.1038/s41436-018-0285-0 · https://pubmed.ncbi.nlm.nih.gov/30245514/

## TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ.
Human mutation (2014). https://doi.org/10.1002/humu.22557 · https://pubmed.ncbi.nlm.nih.gov/24729539/

## A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
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.
PLoS genetics (2015). https://doi.org/10.1371/journal.pgen.1005386 · https://pubmed.ncbi.nlm.nih.gov/26197441/

## Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
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.
American journal of human genetics (2015). https://doi.org/10.1016/j.ajhg.2015.09.011 · https://pubmed.ncbi.nlm.nih.gov/26522471/

## De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
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.
Human genetics (2019). https://doi.org/10.1007/s00439-018-1965-1 · https://pubmed.ncbi.nlm.nih.gov/30535804/

## Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
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.
Human molecular genetics (2021). https://doi.org/10.1093/hmg/ddab145 · https://pubmed.ncbi.nlm.nih.gov/34059922/

## Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.
Bueno AS, Nunes K, Dias AMM, Alves LU, Mendes BCA, Sampaio-Silva J, Smits J, Yntema HG, Meyer D, Lezirovitz K, Mingroni-Netto RC.
European journal of human genetics : EJHG (2022). https://doi.org/10.1038/s41431-021-00891-0 · https://pubmed.ncbi.nlm.nih.gov/33953343/

## A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
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.
Journal of medical genetics (2004). https://doi.org/10.1136/jmg.2003.013896 · https://pubmed.ncbi.nlm.nih.gov/14985372/

## Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
Santos RL, Aulchenko YS, Huygen PL, van der Donk KP, de Wijs IJ, Kemperman MH, Admiraal RJ, Kremer H, Hoefsloot LH, Cremers CW.
International journal of pediatric otorhinolaryngology (2005). https://doi.org/10.1016/j.ijporl.2004.08.015 · https://pubmed.ncbi.nlm.nih.gov/15656949/

## Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.
Stinckens C, Kremer H, van Wijk E, Hoefsloot LH, Huygen PL, Standaert L, Fryns JP, Cremers CW.
The Annals of otology, rhinology, and laryngology (2004). https://doi.org/10.1177/000348940411300714 · https://pubmed.ncbi.nlm.nih.gov/15274422/

## MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.
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.
American journal of medical genetics. Part A (2007). https://doi.org/10.1002/ajmg.a.31937 · https://pubmed.ncbi.nlm.nih.gov/17853461/

## Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
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.
Human genetics (2022). https://doi.org/10.1007/s00439-021-02336-6 · https://pubmed.ncbi.nlm.nih.gov/34410491/

## Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H.
Human mutation (2005). https://doi.org/10.1002/humu.9384 · https://pubmed.ncbi.nlm.nih.gov/16287143/

## Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.
de Heer AM, Collin RW, Huygen PL, Schraders M, Oostrik J, Rouwette M, Kunst HP, Kremer H, Cremers CW.
Audiology & neuro-otology (2011). https://doi.org/10.1159/000313282 · https://pubmed.ncbi.nlm.nih.gov/21252500/

## Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
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.
Journal of the Association for Research in Otolaryngology : JARO (2011). https://doi.org/10.1007/s10162-011-0282-3 · https://pubmed.ncbi.nlm.nih.gov/21786053/

## The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
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.
Human genetics (2024). https://doi.org/10.1007/s00439-024-02648-3 · https://pubmed.ncbi.nlm.nih.gov/38691166/

## Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).
Pennings RJ, Topsakal V, Astuto L, de Brouwer AP, Wagenaar M, Huygen PL, Kimberling WJ, Deutman AF, Kremer H, Cremers CW.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology (2004). https://doi.org/10.1097/00129492-200409000-00009 · https://pubmed.ncbi.nlm.nih.gov/15353998/

## Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
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.
Human genetics (2003). https://doi.org/10.1007/s00439-002-0833-0 · https://pubmed.ncbi.nlm.nih.gov/12522556/

## A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.
Siddiqi S, Ismail M, Oostrik J, Munawar S, Mansoor A, Kremer H, Qamar R, Schraders M.
Journal of human genetics (2014). https://doi.org/10.1038/jhg.2014.86 · https://pubmed.ncbi.nlm.nih.gov/25296581/

## Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
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.
American journal of human genetics (2012). https://doi.org/10.1016/j.ajhg.2012.09.012 · https://pubmed.ncbi.nlm.nih.gov/23122587/

## Similar phenotypes caused by mutations in OTOG and OTOGL.
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.
Ear and hearing (2014). https://doi.org/10.1097/aud.0000000000000008 · https://pubmed.ncbi.nlm.nih.gov/24378291/

## A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.
Alasti F, Sanati MH, Behrouzifard AH, Sadeghi A, de Brouwer AP, Kremer H, Smith RJ, Van Camp G.
International journal of pediatric otorhinolaryngology (2008). https://doi.org/10.1016/j.ijporl.2007.09.023 · https://pubmed.ncbi.nlm.nih.gov/18022253/

## Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
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.
American journal of human genetics (2010). https://doi.org/10.1016/j.ajhg.2009.12.017 · https://pubmed.ncbi.nlm.nih.gov/20137778/

## Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.
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.
Hearing research (2017). https://doi.org/10.1016/j.heares.2016.12.017 · https://pubmed.ncbi.nlm.nih.gov/28089734/

## Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
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.
American journal of human genetics (2008). https://doi.org/10.1016/j.ajhg.2007.09.008 · https://pubmed.ncbi.nlm.nih.gov/18179891/

## Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
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.
European journal of human genetics : EJHG (2016). https://doi.org/10.1038/ejhg.2015.157 · https://pubmed.ncbi.nlm.nih.gov/26173970/

## Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
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.
Human mutation (2007). https://doi.org/10.1002/humu.20510 · https://pubmed.ncbi.nlm.nih.gov/17373699/

## Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
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.
Nature genetics (2008). https://doi.org/10.1038/ng.245 · https://pubmed.ncbi.nlm.nih.gov/18953341/

## A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.
Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin RW, Heister JG, Oostrik J, Cremers CW, Brunner HG, Karaguzel A, Kremer H.
Journal of molecular medicine (Berlin, Germany) (2007). https://doi.org/10.1007/s00109-006-0136-3 · https://pubmed.ncbi.nlm.nih.gov/17211611/

## Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
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.
Human mutation (2006). https://doi.org/10.1002/humu.20368 · https://pubmed.ncbi.nlm.nih.gov/16752389/

## Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
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.
Clinical genetics (2018). https://doi.org/10.1111/cge.13368 · https://pubmed.ncbi.nlm.nih.gov/29676012/

## Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
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.
American journal of human genetics (2010). https://doi.org/10.1016/j.ajhg.2010.02.003 · https://pubmed.ncbi.nlm.nih.gov/20170898/

## Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.
Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H.
American journal of human genetics (2010). https://doi.org/10.1016/j.ajhg.2010.02.015 · https://pubmed.ncbi.nlm.nih.gov/20346435/

## Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
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.
American journal of human genetics (2012). https://doi.org/10.1016/j.ajhg.2012.09.011 · https://pubmed.ncbi.nlm.nih.gov/23122586/

## A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
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.
American journal of human genetics (2012). https://doi.org/10.1016/j.ajhg.2012.08.018 · https://pubmed.ncbi.nlm.nih.gov/22981119/

## Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
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.
European journal of human genetics : EJHG (2015). https://doi.org/10.1038/ejhg.2014.83 · https://pubmed.ncbi.nlm.nih.gov/24781754/

## MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
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.
American journal of human genetics (2018). https://doi.org/10.1016/j.ajhg.2018.05.011 · https://pubmed.ncbi.nlm.nih.gov/29961571/

## R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
Verver E, Pecci A, De Rocco D, Ryhänen S, Barozzi S, Kunst H, Topsakal V, Savoia A.
Clinical genetics (2015). https://doi.org/10.1111/cge.12438 · https://pubmed.ncbi.nlm.nih.gov/24890873/

## Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
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.
Ear and hearing (2016). https://doi.org/10.1097/aud.0000000000000198 · https://pubmed.ncbi.nlm.nih.gov/26226608/

## Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.
Santos RL, Häfner FM, Huygen PL, Linder TE, Schinzel AA, Spillmann T, Leal SM.
Audiology & neuro-otology (2006). https://doi.org/10.1159/000093525 · https://pubmed.ncbi.nlm.nih.gov/16717440/

## A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.
Snoeckx RL, Kremer H, Ensink RJ, Flothmann K, de Brouwer A, Smith RJ, Cremers CW, Van Camp G.
Journal of medical genetics (2004). https://doi.org/10.1136/jmg.2003.010702 · https://pubmed.ncbi.nlm.nih.gov/14729819/

## Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1-2q23.3.
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.
Hearing research (2013). https://doi.org/10.1016/j.heares.2013.03.007 · https://pubmed.ncbi.nlm.nih.gov/23538131/

## Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.
Pennings RJ, Huygen PL, Weston MD, van Aarem A, Wagenaar M, Kimberling WJ, Cremers CW.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology (2003). https://doi.org/10.1097/00129492-200301000-00013 · https://pubmed.ncbi.nlm.nih.gov/12544030/

## Audiometric characteristics of USH2a patients.
Leijendeckers JM, Pennings RJ, Snik AF, Bosman AJ, Cremers CW.
Audiology & neuro-otology (2009). https://doi.org/10.1159/000189265 · https://pubmed.ncbi.nlm.nih.gov/19129697/

## A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
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.
Hearing research (2016). https://doi.org/10.1016/j.heares.2016.06.008 · https://pubmed.ncbi.nlm.nih.gov/27318125/

## From Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A.
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.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology (2026). https://doi.org/10.1097/mao.0000000000004851 · https://pubmed.ncbi.nlm.nih.gov/41729786/

## Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP.
Science (New York, N.Y.) (1995). https://doi.org/10.1126/science.7839145 · https://pubmed.ncbi.nlm.nih.gov/7839145/

## Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
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.
American journal of human genetics (2011). https://doi.org/10.1016/j.ajhg.2011.04.012 · https://pubmed.ncbi.nlm.nih.gov/21549342/

## 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.
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.
Human genetics (2024). https://doi.org/10.1007/s00439-024-02706-w · https://pubmed.ncbi.nlm.nih.gov/39406892/

## A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.
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.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology (2021). https://doi.org/10.1097/mao.0000000000003004 · https://pubmed.ncbi.nlm.nih.gov/33710989/

## Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
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.
Human genetics (2022). https://doi.org/10.1007/s00439-022-02441-0 · https://pubmed.ncbi.nlm.nih.gov/35226187/

## Genetic Hearing Loss Affects Cochlear Processing.
Lanting C, Snik A, Leijendeckers J, Bosman A, Pennings R.
Genes (2022). https://doi.org/10.3390/genes13111923 · https://pubmed.ncbi.nlm.nih.gov/36360160/

## HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
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.
PLoS genetics (2015). https://doi.org/10.1371/journal.pgen.1005137 · https://pubmed.ncbi.nlm.nih.gov/25816005/

## Phenotype description of a novel DFNA9/COCH mutation, I109T.
Pauw RJ, Huygen PL, Collin RW, Cruysberg JR, Hoefsloot LH, Kremer H, Cremers CW.
The Annals of otology, rhinology, and laryngology (2007). https://doi.org/10.1177/000348940711600506 · https://pubmed.ncbi.nlm.nih.gov/17561763/

## Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.
Pauw RJ, Huygen PL, Colditz GM, Cremers CW.
The Annals of otology, rhinology, and laryngology (2011). https://doi.org/10.1177/000348941112000612 · https://pubmed.ncbi.nlm.nih.gov/21774451/

## Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.
Kemperman MH, De Leenheer EM, Huygen PL, van Duijnhoven G, Morton CC, Robertson NG, Cremers FP, Kremer H, Cremers CW.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology (2005). https://doi.org/10.1097/01.mao.0000185062.12458.87 · https://pubmed.ncbi.nlm.nih.gov/16151339/

## Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.
Weegerink NJ, Huygen PL, Schraders M, Kremer H, Pennings RJ, Kunst HP.
Hearing research (2011). https://doi.org/10.1016/j.heares.2011.08.010 · https://pubmed.ncbi.nlm.nih.gov/21893181/

## DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
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.
Human mutation (2011). https://doi.org/10.1002/humu.21512 · https://pubmed.ncbi.nlm.nih.gov/21520338/

## Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.
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.
Archives of otolaryngology--head & neck surgery (2001). https://doi.org/10.1001/archotol.127.9.1045 · https://pubmed.ncbi.nlm.nih.gov/11556850/

## Further delineation of the DFNA5 phenotype: results of speech recognition tests.
De Leenheer EM, van Zuijlen DA, Van Laer L, Van Camp G, Huygen PL, Huizing EH, Cremers CW.
The Annals of otology, rhinology, and laryngology (2002). https://doi.org/10.1177/000348940211100712 · https://pubmed.ncbi.nlm.nih.gov/12126021/

## Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).
van Beelen E, Leijendeckers JM, Huygen PL, Admiraal RJ, Hoefsloot LH, Lichtenbelt KD, Stöbe L, Pennings RJ, Leuwer R, Snik AF, Kunst HP.
Hearing research (2012). https://doi.org/10.1016/j.heares.2012.07.001 · https://pubmed.ncbi.nlm.nih.gov/22796475/

## Performance Results and Timing of Cochlear Implantation in Patients With DFNA9 (p.Pro51Ser).
Robijn SMM, van Nierop JWI, Huinck WJ, Mylanus EAM, Kunst HPM, Lanting CP, Pennings RJE.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology (2026). https://doi.org/10.1097/mao.0000000000004969 · https://pubmed.ncbi.nlm.nih.gov/42259506/