Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

(2011) Nikoletta Charizopoulou et al.   Nature Communications

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

(2010) Atteeq Ur Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

A Genome-wide Survey of the Prevalence and Evolutionary Forces Acting on Human Nonsense SNPs

(2009) Bryndis Yngvadottir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hearing Loss: Mechanisms Revealed by Genetics and Cell Biology

(2009) Amiel A. Dror et al.   Annual Review of Genetics

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

(2009) Pamela Nicholson et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Function and Expression Pattern of Nonsyndromic Deafness Genes

(2009) Nele Hilgert et al.   CURRENT MOLECULAR MEDICINE