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

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Deaf Genetic Testing and Psychological Well-Being in Deaf Adults

(2013) Christina G. S. Palmer et al.   Journal of Genetic Counseling

Etiology of unilateral hearing loss in a national hereditary deafness repository

(2012) Kelley M. Dodson et al.   AMERICAN JOURNAL OF OTOLARYNGOLOGY

GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

(2012) Sandra Iossa et al.   CURRENT GENOMICS

Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct

(2012) R Lai et al.   JOURNAL OF LARYNGOLOGY AND OTOLOGY

Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study

(2012) Shin-ichi Usami et al.   PLoS One

Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

(2012) Asli Sirmaci et al.   PLoS One

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 in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

(2012) Shamima Rahman et al.   BMJ Open

Deafness in the genomics era

(2011) A. Eliot Shearer et al.   HEARING RESEARCH

Apoptosis in acquired and genetic hearing impairment: The programmed death of the hair cell

(2011) Ken Op de Beeck et al.   HEARING RESEARCH

Effect of Pre-test Genetic Counseling for Deaf Adults on Knowledge of Genetic Testing

(2011) Erin E. Baldwin et al.   Journal of Genetic Counseling

Evidence Used to Support the Achievement and Maintenance of Elimination of Rubella and Congenital Rubella Syndrome in the United States

(2011) Susan E. Reef et al.   JOURNAL OF INFECTIOUS DISEASES

Saliva Polymerase-Chain-Reaction Assay for Cytomegalovirus Screening in Newborns

(2011) Suresh B. Boppana et al.   NEW ENGLAND JOURNAL OF MEDICINE

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

(2011) Crystel Bonnet et al.   Orphanet Journal of Rare Diseases

Genetic Approach to Evaluation of Hearing Loss

(2011) Melinda Cohen et al.   OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA

Medical and Surgical Interventions for Hearing Loss Associated with Congenital Cytomegalovirus

(2011) Jennifer J. Shin et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Congenital Cytomegalovirus Infection as a Cause of Sensorineural Hearing Loss in a Highly Immune Population

(2011) Aparecida Y. Yamamoto et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

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

Audiologic Phenotype and Progression in GJB2 (Connexin 26) Hearing Loss

(2010) Margaret A. Kenna et al.   ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY

A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome

(2010) E.A. de Zwart-Storm et al.   BRITISH JOURNAL OF DERMATOLOGY

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

(2010) William J Kimberling et al.   GENETICS IN MEDICINE

Connexin-26–associated deafness: Phenotypic variability and progression of hearing loss

(2010) Dylan K Chan et al.   GENETICS IN MEDICINE

Congenital cytomegalovirus infection: treatment, sequelae and follow-up

(2010) Giuseppina Lombardi et al.   Journal of Maternal-Fetal & Neonatal Medicine

Comprehensive Diagnostic Battery for Evaluating Sensorineural Hearing Loss in Children

(2010) Jerry W. Lin et al.   OTOLOGY & NEUROTOLOGY

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

Exposure to hazardous workplace noise and use of hearing protection devices among US workers-NHANES, 1999-2004

(2009) SangWoo Tak et al.   AMERICAN JOURNAL OF INDUSTRIAL MEDICINE

Impact of genetic advances and testing for hearing loss: Results from a national consumer survey

(2009) Kara A. Withrow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A prospective, longitudinal study of the impact ofGJB2/GJB6genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants

(2009) Christina G.S. Palmer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Provision of Genetic Services for Hearing Loss: Results from a National Survey and Comparison to Insights Obtained from Previous Focus Group Discussions

(2009) Kara Anne Withrow et al.   Journal of Genetic Counseling

Cytomegalovirus Shedding and Delayed Sensorineural Hearing Loss

(2009) Lauren Stancik Rosenthal et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Permanent Bilateral Sensory and Neural Hearing Loss of Children After Neonatal Intensive Care Because of Extreme Prematurity: A Thirty-Year Study

(2009) C. M. T. Robertson et al.   PEDIATRICS

Hearing Assessment in Infants and Children: Recommendations Beyond Neonatal Screening

(2009) A. D. B. Harlor et al.   PEDIATRICS

GRM7 variants confer susceptibility to age-related hearing impairment

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

Consumer Motivations for Pursuing Genetic Testing and their Preferences for the Provision of Genetic Services for Hearing Loss

(2008) Kara A. Withrow et al.   Journal of Genetic Counseling

Congenital cytomegalovirus (CMV) infection as a cause of permanent bilateral hearing loss: A quantitative assessment

(2007) Scott D. Grosse et al.   JOURNAL OF CLINICAL VIROLOGY