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Plos Genetics|July 22, 2015
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing ImpairmentMette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, et al.
International Journal of Molecular Sciences|July 2, 2021
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP CasesJanine Reurink, Adrian Dockery, Dominika Oziębło, et al.
Human Genetics|December 12, 2018
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairmentJeroen J Smits, Jaap Oostrik, Andy J Beynon, et al.
NPJ Genomic Medicine|June 7, 2022
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variantJanine Reurink, Erik de Vrieze, Catherina H Z Li, et al.
American Journal of Human Genetics|November 6, 2012
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairmentMargit Schraders, Laura Ruiz-Palmero, Ersan Kalay, et al.
Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.
American Journal of Human Genetics|November 6, 2012
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing lossKemal O Yariz, Duygu Duman, Celia Zazo Seco, et al.
Human Genetics|May 14, 2018
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunctionMieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, et al.
American Journal of Human Genetics|July 3, 2018
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and MouseMieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, et al.
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