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

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

(2014) A. Eliot Shearer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population

(2014) Michael S. Hildebrand et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss

(2014) Guney Bademci et al.   Genetic Testing and Molecular Biomarkers

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

(2014) Hidekane Yoshimura et al.   PLoS One

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

(2014) Oscar Diaz-Horta et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) A Shearer et al.   Genome Medicine

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

(2013) Priya Landa et al.   BMC Medical Genetics

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

(2013) Tao Yang et al.   Orphanet Journal of Rare Diseases

Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

(2012) Kemal O. Yariz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal recessive nonsyndromic deafness genes: a review

(2012) Duygu Duman   Frontiers in Bioscience-Landmark

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

(2012) Oscar Diaz-Horta et al.   PLoS One

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Recurrent and Private MYO15A Mutations Are Associated with Deafness in the Turkish Population

(2010) F. Basak Cengiz et al.   Genetic Testing and Molecular Biomarkers

Screening of 38 Genes Identifies Mutations in 62% of Families with Nonsyndromic Deafness in Turkey

(2010) Duygu Duman et al.   Genetic Testing and Molecular Biomarkers

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

(2010) Nejat Mahdieh et al.   JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

(2010) A. E. Shearer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A founderTMIEmutation is a frequent cause of hearing loss in southeastern Anatolia

(2009) A Sırmacı et al.   CLINICAL GENETICS

Novel OTOF mutations in Brazilian patients with auditory neuropathy

(2009) Jihane Romanos et al.   JOURNAL OF HUMAN GENETICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

(2008) Montserrat Rodríguez-Ballesteros et al.   HUMAN MUTATION