Genetics of hearing loss in the Arab population of Northern Israel

The risk ratio for development of hereditary sensorineural hearing loss in consanguineous marriage offspring

(2017) Hossam Sanyelbhaa et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

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

(2017) D. Baux et al.   Scientific Reports

A splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondria

(2016) Fuencisla Matesanz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

(2016) Celia Zazo Seco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function

(2016) Baptiste Fischer et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function

(2016) Baptiste Fischer et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing

(2015) Qing Fang et al.   eLife

Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

(2014) Atteeq U. Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

(2014) Ane Y Steffensen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

(2014) Sobia Shafique et al.   PLoS One

Genetics and genomic medicine in Israel

(2014) Joël Zlotogora   Molecular Genetics & Genomic Medicine

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

(2011) Zippora Brownstein et al.   GENOME BIOLOGY

Alternative splicing and evolution: diversification, exon definition and function

(2010) Hadas Keren et al.   NATURE REVIEWS GENETICS

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS