Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

Update on theACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

(2016) Nataliya Di Donato et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

(2016) Devanshi Mehta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

(2016) Denise Yan et al.   HUMAN GENETICS

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

(2016) Manou Sommen et al.   HUMAN MUTATION

Assessment of the latest NGS enrichment capture methods in clinical context

(2016) Gema García-García et al.   Scientific Reports

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

(2016) G. Bademci et al.   Scientific Reports

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

(2015) Ahmad N. Abou Tayoun et al.   GENETICS IN MEDICINE

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

(2015) Guney Bademci et al.   GENETICS IN MEDICINE

WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations

(2015) Alessandro Liquori et al.   HUMAN MUTATION

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible and more sensitive for variant detection, than exome sequencing

(2014) Mark B. Consugar et al.   GENETICS IN MEDICINE

Evidence for genotype–phenotype correlation for OTOF mutations

(2014) Muzeyyen Yildirim-Baylan et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Comprehensive Diagnostic Testing for Stereocilin

(2014) Diana Mandelker et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

DFNB16 is a frequent cause of congenital hearing impairment: implementation ofSTRCmutation analysis in routine diagnostics

(2013) B. Vona et al.   CLINICAL GENETICS

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

(2013) Lies H Hoefsloot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

(2013) Nicole Hoppman et al.   Molecular Cytogenetics

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

(2011) Christel Vaché et al.   HUMAN MUTATION

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

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

(2010) William J Kimberling et al.   GENETICS IN MEDICINE

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

(2010) Sandie Le Guédard-Méreuze et al.   HUMAN MUTATION

Update on Usher syndrome

(2009) Zubin Saihan et al.   CURRENT OPINION IN NEUROLOGY

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

(2009) Sandie Le Guédard-Méreuze et al.   HUMAN MUTATION

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

(2008) A. Pera et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA