Analysis of GJB6 (Сx30) and GJB3 (Сx31) genes in deaf patients with monoallelic mutations in GJB2 (Сx26) gene in the Sakha Republic (Yakutia)

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

New recurrent large deletion, encompassing both GJB2 and GB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive mode of inheritance

(2014) E. A. Bliznetz et al.   RUSSIAN JOURNAL OF GENETICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Spectrum of Genetic Changes in Patients with Non-Syndromic Hearing Impairment and Extremely High Carrier Frequency of 35delG GJB2 Mutation in Belarus

(2012) Nina Danilenko et al.   PLoS One

Changes in the connexin 26 gene (GJB2) in Russian patients with hearing loss: Results of long-term molecular diagnostics of hereditary nonsyndromic hearing loss

(2012) E. A. Bliznetz et al.   RUSSIAN JOURNAL OF GENETICS

Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations

(2011) Michael Lipan et al.   LARYNGOSCOPE

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

(2010) E Wilch et al.   CLINICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Cellular characterization of Connexin26 and Connnexin30 expression in the cochlear lateral wall

(2008) Ying-Peng Liu et al.   CELL AND TISSUE RESEARCH

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

(2008) Delphine Feldmann et al.   European Journal of Medical Genetics

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

(2008) Xue-Zhong Liu et al.   HUMAN GENETICS