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- Publications
- Influence
GJB2 mutations and degree of hearing loss: a multicenter study.
- R. L. Snoeckx, P. Huygen, +61 authors G. Van Camp
- Medicine
- American journal of human genetics
- 1 December 2005
Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which… Expand
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
- F. J. del Castillo, M. Rodríguez-Ballesteros, +27 authors I. del Castillo
- Biology, Medicine
- Journal of Medical Genetics
- 1 July 2005
Hearing impairment is a common and highly heterogeneous sensory disorder. Genetic causes are thought to be responsible for more than 60% of the cases in developed countries.1 In the majority of… Expand
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
- I. del Castillo, M. Moreno-Pelayo, +25 authors F. Moreno
- Biology, Medicine
- American journal of human genetics
- 1 December 2003
Mutations in GJB2, the gene encoding connexin-26 at the DFNB1 locus on 13q12, are found in as many as 50% of subjects with autosomal recessive, nonsyndromic prelingual hearing impairment. However,… Expand
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families
- Z. Brownstein, L. M. Friedman, +18 authors K. Avraham
- Medicine, Biology
- Genome Biology
- 14 September 2011
BackgroundIdentification of genes responsible for medically important traits is a major challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted DNA capture and… Expand
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.
- T. Walsh, S. Pierce, +14 authors K. Avraham
- Biology, Medicine
- American journal of human genetics
- 9 July 2010
Age-related hearing loss is due to death over time, primarily by apoptosis, of hair cells in the inner ear. Studies of mutant genes responsible for inherited progressive hearing loss have suggested… Expand
SPIKE: a database of highly curated human signaling pathways
- A. Paz, Z. Brownstein, +9 authors R. Shamir
- Biology, Computer Science
- Nucleic Acids Res.
- 19 November 2010
TLDR
Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus.
- Z. Brownstein, A. Goldfarb, H. Levi, M. Frydman, K. Avraham
- Medicine
- Archives of otolaryngology--head & neck surgery
- 1 April 2006
OBJECTIVE
To perform chromosomal mapping and clinical analysis of hereditary otosclerosis linked to the fourth locus for otosclerosis (OTSC4) in an Israeli family.
DESIGN
Pedigree study.
SETTING… Expand
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing
- Z. Brownstein, Amal Abu-Rayyan, +7 authors K. Avraham
- Biology, Medicine
- European Journal of Human Genetics
- 1 June 2014
Hereditary hearing loss is genetically heterogeneous, with a large number of genes and mutations contributing to this sensory, often monogenic, disease. This number, as well as large size, precludes… Expand
Connexin-associated deafness and speech perception outcome of cochlear implantation.
- Riki Taitelbaum-Swead, Z. Brownstein, +6 authors K. Avraham
- Medicine
- Archives of otolaryngology--head & neck surgery
- 1 May 2006
OBJECTIVE
To compare performance after cochlear implantation in children with mutations in connexin (Cx) 26 (GJB2) or Cx30 (GJB6) and children with deafness of unknown etiology.
DESIGN
Genetic… Expand
High-throughput sequencing to decipher the genetic heterogeneity of deafness
- Z. Brownstein, Yoni Bhonker, K. Avraham
- Biology, Medicine
- Genome Biology
- 29 May 2012
Identifying genes causing non-syndromic hearing loss has been challenging using traditional approaches. We describe the impact that high-throughput sequencing approaches are having in discovery of… Expand