GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

Mutation analysis of common deafness genes among 1,201 patients with non‐syndromic hearing loss in Shanxi Province

(2019) Yongan Zhou et al.   Molecular Genetics & Genomic Medicine

Identification of causative variants in patients with non-syndromic hearing loss in the Minnan region, China by targeted next-generation sequencing

(2019) Xiaohui Wu et al.   ACTA OTO-LARYNGOLOGICA

Otolaryngology outreach to Komfo Anokye Teaching Hospital: a medical and educational partnership

(2017) B Waller et al.   JOURNAL OF LARYNGOLOGY AND OTOLOGY

WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss

(2017) Natsuko Kasakura-Kimura et al.   LARYNGOSCOPE

Age at Intervention for Permanent Hearing Loss and 5-Year Language Outcomes

(2017) Teresa Y.C. Ching et al.   PEDIATRICS

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families

(2016) K. Lebeko et al.   CLINICAL GENETICS

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

(2016) Asma Behlouli et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015

(2016) Theo Vos et al.   LANCET

Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing

(2016) So Young Kim et al.   MEDICINE

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

(2016) G. Bademci et al.   Scientific Reports

Profound childhood hearing loss in a South Africa cohort: Risk profile, diagnosis and age of intervention

(2015) Talita le Roux et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss

(2015) M. Martínez-Saucedo et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Letter to the Editor regarding “GJB2, GJB6 or GJA1 genes should not be investigated in routine in non syndromic deafness in people of sub-Saharan African descent”

(2015) Ambroise Wonkam   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

A Prospective Longitudinal Study of U.S. Children Unable to Achieve Open-Set Speech Recognition 5 Years After Cochlear Implantation

(2015) Jennifer M. Barnard et al.   OTOLOGY & NEUROTOLOGY

Differential Diagnosis of Children with Suspected Childhood Apraxia of Speech

(2015) Elizabeth Murray et al.   JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH

Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins

(2015) Donna M Werling et al.   Molecular Autism

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss

(2015) Jing Zheng et al.   PLoS One

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The global burden of disabling hearing impairment: a call to action

(2014) Bolajoko O Olusanya et al.   BULLETIN OF THE WORLD HEALTH ORGANIZATION

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: A report from Nigeria

(2014) Akeem O. Lasisi et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Connexin gene mutations among ugandan patients with nonsyndromic sensorineural hearing loss

(2014) Hedyeh Javidnia et al.   LARYNGOSCOPE

Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non-syndromic hearing loss

(2014) HUA JIANG et al.   Molecular Medicine Reports

In Search of Genetic Markers for Nonsyndromic Deafness in Africa: A Study in Cameroonians and Black South Africans with the GJB6 and GJA1 Candidate Genes

(2014) Jason Bosch et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

(2013) Dylan K. Chan et al.   LARYNGOSCOPE

Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa)

(2012) Ambroise Wonkam et al.   European Journal of Medical Genetics

High throughput gene expression analysis of the inner ear

(2012) Ronna Hertzano et al.   HEARING RESEARCH

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

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

“The Gong Gong Was Beaten” —Adamorobe: A “Deaf Village” in Ghana and Its Marriage Prohibition for Deaf Partners

(2012) Annelies Kusters   Sustainability

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population

(2011) Rosemary I. Kabahuma et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

(2011) Peiwei Chen et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment

(2010) G. Padma et al.   JOURNAL OF GENETICS

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