Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Variants in CIB2 cause DFNB48 and not USH1J

(2018) K.T. Booth et al.   CLINICAL GENETICS

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

(2018) Sean V Tavtigian et al.   GENETICS IN MEDICINE

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

(2018) Bruce D Gelb et al.   GENETICS IN MEDICINE

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

(2018) Leslie G Biesecker et al.   GENETICS IN MEDICINE

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

Exonic mutations and exon skipping: Lessons learned from DFNA5

(2018) Kevin T. Booth et al.   HUMAN MUTATION

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

(2017) Steven M. Harrison et al.   GENETICS IN MEDICINE

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

(2017) Parna Chattaraj et al.   JOURNAL OF MEDICAL GENETICS

Hearing Loss in Adults

(2017) Lisa L. Cunningham et al.   NEW ENGLAND JOURNAL OF MEDICINE

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

(2016) S. Stritt et al.   BLOOD

Extension of the clinical and molecular phenotype of DIAPH1 -associated autosomal dominant hearing loss (DFNA1 )

(2016) C. Neuhaus et al.   CLINICAL GENETICS

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

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

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

(2016) Yoh-ichiro Iwasa et al.   PLoS One

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

(2016) Judith Savige et al.   PLoS One

PDZD7and hearing loss: More than just a modifier

(2015) Kevin T. Booth et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss

(2015) Hideaki Moteki et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

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

The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories

(2015) Melanie G. Pepin et al.   GENETICS IN MEDICINE

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

NovelCOCHp.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion

(2015) Jinsei Jung et al.   HUMAN MUTATION

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

(2015) Imen Chakchouk et al.   MOLECULAR GENETICS AND GENOMICS

Identification of Novel Functional Null Allele of SLC26A4 Associated with Enlarged Vestibular Aqueduct and Its Possible Implication

(2014) Jeong Hun Jang et al.   AUDIOLOGY AND NEURO-OTOLOGY

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

(2014)   GENETICS IN MEDICINE

Identification of Pathogenic Mechanisms ofCOCHMutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype-Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder

(2014) Seung-Hyun Bae et al.   HUMAN MUTATION

MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations

(2013) Alessandro Pecci et al.   HUMAN MUTATION

Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

(2013) Takehiko Naito et al.   PLoS One

Analysis of Trafficking, Stability and Function of Human Connexin 26 Gap Junction Channels with Deafness-Causing Mutations in the Fourth Transmembrane Helix

(2013) Cinzia Ambrosi et al.   PLoS One

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

(2012) Dan Doherty et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GPSM2mutations in Chudley-McCullough syndrome

(2012) Oscar Diaz-Horta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A prevalent founder mutation and genotype-phenotype correlations ofOTOFin Japanese patients with auditory neuropathy

(2012) T Matsunaga et al.   CLINICAL GENETICS

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

(2012) Hyun-Ju Cho et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss

(2012) Valentina Cirello et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China

(2012) Yongyi Yuan et al.   PLoS One

Hearing Loss Prevalence in the United States

(2011) Frank R. Lin   ARCHIVES OF INTERNAL MEDICINE

Analysis of Cellular Localization and Function of Carboxy-Terminal Mutants of Pendrin

(2011) Aigerim Bizhanova et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Pendrin Function and Regulation in Xenopus Oocytes

(2011) Fabian R. Reimold et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Identification of Allelic Variants of Pendrin (SLC26A4) with Loss and Gain of Function

(2011) Silvia Dossena et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Functional Characterization of Pendrin Mutations Found in the Israeli and Palestinian Populations

(2011) Silvia Dossena et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

(2011) Michael S. Hildebrand et al.   HUMAN MUTATION

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

(2011) Polona Le Quesne Stabej et al.   JOURNAL OF MEDICAL GENETICS

Salicylate restores transport function and anion exchanger activity of missense pendrin mutations

(2010) Kenji Ishihara et al.   HEARING RESEARCH

Review and update of mutations causing Waardenburg syndrome

(2010) Véronique Pingault et al.   HUMAN MUTATION

Role of Protein Misfolding in DFNA9 Hearing Loss

(2010) Jianhua Yao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hypo-FunctionalSLC26A4variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

(2009) Byung Yoon Choi et al.   HUMAN MUTATION

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

(2009) B Y Choi et al.   JOURNAL OF MEDICAL GENETICS

A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma

(2008) Yongyi Yuan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss

(2008) Ram Shankar Mani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Connexin Mutations Causing Skin Disease and Deafness Increase Hemichannel Activity and Cell Death when Expressed in Xenopus Oocytes

(2008) Jack R. Lee et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease

(2007) Alessandro Pecci et al.   HUMAN MUTATION

Pendred Syndrome in Two Galician Families: Insights into Clinical Phenotypes through Cellular, Genetic, and Molecular Studies

(2007) Fernando Palos et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM