Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss

Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness

(2019) Bong Jik Kim et al.   HUMAN MUTATION

‘Distal 16p12.2 microdeletion’ in a patient with autosomal recessive deafness-22

(2019) Elisa Tassano et al.   JOURNAL OF GENETICS

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

(2019) Yoh-ichiro Iwasa et al.   PLoS One

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

(2018) Rubén Cabanillas et al.   BMC Medical Genomics

Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients

(2018) L. He et al.   CLINICAL GENETICS

Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel

(2018) Shin-ya Nishio et al.   Molecular Genetics & Genomic Medicine

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis

(2018) Masafumi Kobayashi et al.   PLoS One

Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families

(2017) Moza K. Alkowari et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

(2017) Tomohiro Kitano et al.   PLoS One

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization

(2016) Hideaki Moteki et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

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

(2016) Christina M. Sloan-Heggen 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

Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort

(2015) Shin-ya Nishio et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

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

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

(2015) Fatima Ammar-Khodja et al.   Molecular Genetics & Genomic Medicine

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

Comprehensive Diagnostic Testing for Stereocilin

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

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2014) A Shearer et al.   Genome Medicine

PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders

(2013) Ellen A. Tsai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients

(2013) Maiko Miyagawa et al.   PLoS One

Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS

(2013) Maiko Miyagawa et al.   PLoS One

NovelOTOAmutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families

(2012) K Lee et al.   CLINICAL GENETICS

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion

(2012) Hideaki Moteki et al.   JOURNAL OF HUMAN GENETICS

A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation

(2012) A. N. Lukashkin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

(2009) Hashem Shahin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

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

(2009) Prateek Kumar et al.   Nature Protocols

Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA

(2008) A.R. de Heer et al.   AUDIOLOGY AND NEURO-OTOLOGY