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

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

(2013) Hae-Mi Woo et al.   BMC Medical 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

Next-Generation Sequencing in Genetic Hearing Loss

(2013) Denise Yan et al.   Genetic Testing and Molecular Biomarkers

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families

(2013) Zied Riahi et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome

(2013) Zied Riahi et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

(2013) Saeko Ishida et al.   NATURE GENETICS

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

(2012) Sedigheh Delmaghani et al.   HUMAN MOLECULAR GENETICS

The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population

(2012) Majida Charif et al.   MOLECULAR BIOLOGY REPORTS

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

(2012) Lilia Romdhane et al.   Orphanet Journal of Rare Diseases

Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

(2012) Asli Sirmaci et al.   PLoS One

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

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

Mechanotransduction in mouse inner ear hair cells requires transmembrane channel–like genes

(2011) Yoshiyuki Kawashima et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

(2008) Zubair M Ahmed et al.   NATURE GENETICS

A catechol-O-methyltransferase that is essential for auditory function in mice and humans

(2008) X. Du et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA