Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Dementia prevention, intervention, and care

(2017) Gill Livingston et al.   LANCET

Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing

(2016) A. Buniello et al.   EMBO Molecular Medicine

Application of Mouse Models to Research in Hearing and Balance

(2016) Kevin K. Ohlemiller et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY

A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records

(2016) Thomas J. Hoffmann et al.   PLoS Genetics

Genome-wide association analysis on normal hearing function identifiesPCDH20andSLC28A3as candidates for hearing function and loss

(2015) Dragana Vuckovic et al.   HUMAN MOLECULAR GENETICS

Gene Expression by Mouse Inner Ear Hair Cells during Development

(2015) D. I. Scheffer et al.   JOURNAL OF NEUROSCIENCE

Characterization of the Transcriptome of Nascent Hair Cells and Identification of Direct Targets of the Atoh1 Transcription Factor

(2015) T. Cai et al.   JOURNAL OF NEUROSCIENCE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Nedd4-induced monoubiquitination of IRS-2 enhances IGF signalling and mitogenic activity

(2015) Toshiaki Fukushima et al.   Nature Communications

Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

(2014) Holly K. Tabor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment

(2014) Erik Fransen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Salt-inducible kinase 3, SIK3, is a new gene associated with hearing

(2014) Lisa E. Wolber et al.   HUMAN MOLECULAR GENETICS

The Association between Hearing Loss and Social Isolation in Older Adults

(2014) Paul Mick et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Tumor Necrosis Factor-alpha-mutant Mice Exhibit High Frequency Hearing Loss

(2013) Naoki Oishi et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY

Classifying Human Audiometric Phenotypes of Age-Related Hearing Loss from Animal Models

(2013) Judy R. Dubno et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY

Otoferlin Couples to Clathrin-Mediated Endocytosis in Mature Cochlear Inner Hair Cells

(2013) S. V. Duncker et al.   JOURNAL OF NEUROSCIENCE

A functional and genetic analysis of SOD2 promoter variants and their contribution to age-related hearing loss

(2013) Lisa S. Nolan et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice

(2013) Lisa S. Nolan et al.   NEUROBIOLOGY OF AGING

Detecting false-positive signals in exome sequencing

(2012) Karin V. Fuentes Fajardo et al.   HUMAN MUTATION

Mental health of deaf people

(2012) Johannes Fellinger et al.   LANCET

Unknown

(2012) Silvia Murillo-Cuesta et al.   MOLECULAR MEDICINE

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Hearing Ability with Age in Northern European Women: A New Web-Based Approach to Genetic Studies

(2012) Lisa E. Wolber et al.   PLoS One

Diabetes and Neurodegeneration in Wolfram Syndrome: A multicenter study of phenotype and genotype

(2011) J. Rohayem et al.   DIABETES CARE

Nedd4-mediated AMPA receptor ubiquitination regulates receptor turnover and trafficking

(2011) Amy Lin et al.   JOURNAL OF NEUROCHEMISTRY

Associations Between Hearing Impairment and Mortality Risk in Older Persons: The Blue Mountains Hearing Study

(2010) Michael J. Karpa et al.   ANNALS OF EPIDEMIOLOGY

Phosphatase and tensin homolog deleted on chromosome 10 regulates sensory cell proliferation and differentiation of hair bundles in the mammalian cochlea

(2010) Y. Dong et al.   NEUROSCIENCE

HECT Domain-containing E3 Ubiquitin Ligase Nedd4 Interacts with and Ubiquitinates Sprouty2

(2009) Francis Edwin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays

(2009) Avinash Persaud et al.   Molecular Systems Biology

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

(2009) Ángeles Mencía et al.   NATURE GENETICS

An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice

(2009) Morag A Lewis et al.   NATURE GENETICS

Expression patterns of Nedd4 isoforms and SGK1 in the rat cochlea

(2008) Shi-Xun Zhong et al.   ACTA OTO-LARYNGOLOGICA

Genome-wide SNP-Based Linkage Scan Identifies a Locus on 8q24 for an Age-Related Hearing Impairment Trait

(2008) Jeroen R. Huyghe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GRM7 variants confer susceptibility to age-related hearing impairment

(2008) Rick A. Friedman et al.   HUMAN MOLECULAR GENETICS

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

(2008) S. G. Jacobson et al.   HUMAN MOLECULAR GENETICS