Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

(2018) Hela Azaiez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome

(2016) Cuicui Wang et al.   ACTA OTO-LARYNGOLOGICA

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

(2016) Christina M. Sloan-Heggen et al.   HUMAN GENETICS

A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease

(2015) Xiaoqing Zhang et al.   BMC GENOMICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

(2015) Christina M Sloan-Heggen et al.   JOURNAL OF MEDICAL GENETICS

Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss

(2014) Dongyan Fan et al.   PLoS One

Copy number variants are a common cause of non-syndromic hearing loss

(2014) A Shearer et al.   Genome Medicine

Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

(2011) Nicole J. D. Weegerink et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics