Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

Contribution of GJB2 Mutations to Hearing Loss in the Hazara Division of Pakistan

(2013) Ihtisham Bukhari et al.   BIOCHEMICAL GENETICS

The Common TMC1 Mutation c.100C>T (p.Arg34X) Is Not a Significant Cause of Deafness in British Asians

(2012) Claire Searle et al.   Genetic Testing and Molecular Biomarkers

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

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

Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

(2011) Nicole J. D. Weegerink et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY

Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing

(2011) Lydie Fasquelle et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SignalP 4.0: discriminating signal peptides from transmembrane regions

(2011) Thomas Nordahl Petersen et al.   NATURE METHODS

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

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

Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74

(2010) Zubair M. Ahmed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

(2010) Anne-Martine R. de Heer et al.   AUDIOLOGY AND NEURO-OTOLOGY

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

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

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

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39

(2009) Julie M. Schultz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family

(2009) A.C. Batissoco et al.   BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

(2009) N Hilgert et al.   CLINICAL GENETICS

The Controversial p.Arg127His Mutation in GJB2: Report on Three Portuguese Hearing Loss Family Cases

(2009) Tiago D. Matos 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

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Endocochlear potential depends on Cl− channels: mechanism underlying deafness in Bartter syndrome IV

(2008) Gesa Rickheit et al.   EMBO JOURNAL

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

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

Transcriptional expression ofcis-acting andtrans-acting splicing mutations cause autosomal dominant retinitis pigmentosa

(2008) María José Gamundi et al.   HUMAN MUTATION

Disease-Causing Dysfunctions of Barttin in Bartter Syndrome Type IV

(2008) A. G.H. Janssen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?

(2008) Nele Hilgert et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance

(2007) Bernhard K Krämer et al.   Nature clinical practice. Nephrology