Mordechai Shohat
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View article: Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene Open
Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness genes (DFNA) remains challenging. We report a new DFNA gene, ATP11A , in a Newfoundland family with a v…
View article: Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase Gene
Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase Gene Open
Whole genome approaches are superior for identifying recessive genes, however discovery of dominant genes including deafness genes (DFNA) remains challenging. Herein we report a new DFNA gene, ATP11A , in a Newfoundland family with a varia…
View article: Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene <scp> <i>ATOH1</i> </scp>
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene <span> <i>ATOH1</i> </span> Open
Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, …
View article: Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center Open
View article: Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? Open
View article: Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature Open
The reported family underscores the importance of recognition of this unique skeletal dysplasia by clinicians, and especially by pediatric rheumatologists and orthopedic surgeons.
View article: c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype
c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype Open
Ophira Salomon,1 Ortal Barel,2 Eran Eyal,2 Reut Shnerb Ganor,3 Yeroham Kleinbaum,4 Mordechai Shohat2 1Institute of Thrombosis and Hemostasis, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; 2Cancer…