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

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

(2014) Zied Riahi et al.   PLoS One

SLC26A4mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

(2013) ND Rendtorff et al.   CLINICAL GENETICS

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss

(2013) Zied Riahi et al.   GENE

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

(2013) C. Bonnet et al.   GENE

Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family

(2013) Khushnooda Ramzan et al.   GENE

Screening forMYO15Agene mutations in autosomal recessive nonsyndromic,GJB2negative Iranian deaf population

(2012) Zohreh Fattahi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

(2012) Sarah De Keulenaer et al.   BMC Medical Genomics

TMHS Is an Integral Component of the Mechanotransduction Machinery of Cochlear Hair Cells

(2012) Wei Xiong et al.   CELL

Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B

(2012) Xiaoming Wei et al.   CLINICA CHIMICA ACTA

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

(2012) Sedigheh Delmaghani et al.   HUMAN MOLECULAR GENETICS

Screening of OTOF mutations in Iran: A novel mutation and review

(2012) Nejat Mahdieh et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

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

(2012) Oscar Diaz-Horta 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

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

Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss

(2011) Rasheeda Bashir et al.   European Journal of Medical Genetics

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

(2011) Atteeq U. Rehman et al.   HUMAN GENETICS

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

(2011) Nikoletta Charizopoulou et al.   Nature Communications

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

(2010) Margit Schraders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects

(2010) Mariem Ben Saïd et al.   Genetic Testing and Molecular Biomarkers

Recurrent and Private MYO15A Mutations Are Associated with Deafness in the Turkish Population

(2010) F. Basak Cengiz et al.   Genetic Testing and Molecular Biomarkers

Exome sequencing: the sweet spot before whole genomes

(2010) J. K. Teer et al.   HUMAN MOLECULAR GENETICS

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84

(2010) H. Shahin et al.   JOURNAL OF MEDICAL GENETICS

Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F

(2009) Fatima Ammar-Khodja et al.   European Journal of Medical Genetics

Screening of the DFNB3 Locus: Identification of Three Novel Mutations of MYO15A Associated with Hearing Loss and Further Suggestion for Two Distinctive Genes on This Locus

(2009) Hanen Belguith et al.   Genetic Testing and Molecular Biomarkers

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

(2009) Aslı Sırmacı et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA