Mordechai Shohat

Biochemistry, Genetics and Molecular Biology · Life Sciences

34h-index5.3kcitations154works0.02yr avg
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Research Topics

Inflammasome and immune disorders(19), Hearing, Cochlea, Tinnitus, Genetics(16), Prenatal Screening and Diagnostics(14), Connective tissue disorders research(11), Cholesterol and Lipid Metabolism(10)

Publications154 total

A beneficial role of GLP-1 receptor agonist therapy in ABCC8-MODY (MODY 12)
Journal of Diabetes and its Complications·2023· 7 cited
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
Human Genetics·2022· 20 citedOpen Access
A New BCl6 Transcriptional Corepressor Variant Mosaicism in a Fetus with Severe Fetal-Eye Anomalies
Fetal Diagnosis and Therapy·2022
Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase Gene
Research Square (Research Square)·2021Open Access
Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1–8 does not cause Beals syndrome
European Journal of Medical Genetics·2020· 4 cited
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene <scp> <i>ATOH1</i> </scp>
Clinical Genetics·2020· 28 citedOpen Access
Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
Genetics in Medicine·2020· 5 citedOpen Access
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene <i>ATOH1</i>
2020· 1 cited
Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G&gt;C variant?
European Journal of Human Genetics·2020· 10 citedOpen Access
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
BMC Medical Genetics·2019· 18 citedOpen Access
c.259A&gt;C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype
SHILAP Revista de lepidopterología·2019Open Access
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood
Journal of Medical Genetics·2018· 10 cited
Familial Mediterranean Fever
Europe PMC (PubMed Central)·2016· 11 cited
[Table, GeneReview Scope].
2016
Homozygous deletion of <scp>RAG1</scp>, <scp>RAG2</scp> and 5′ region <scp>TRAF6</scp> causes severe immune suppression and atypical osteopetrosis
Clinical Genetics·2016· 11 cited
Nonvisualization of the Fetal Gallbladder: Can Levels of &amp;#947;-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosis&amp;#947;
Fetal Diagnosis and Therapy·2015· 22 cited
Table 3. [Selected IKBKAP Pathogenic Allelic Variants].
2014
Table 2: [Clinical Manifestations of Familial Dysautonomia].
2014
Table 1. [Summary of Molecular Genetic Testing Used in Familial Mediterranean Fever].
2014
The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry
Genetic Testing and Molecular Biomarkers·2013· 13 citedOpen Access
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Frequent Co-authors

Nurit Magal(14), Nathan Fischel‐Ghodsian(10), Lina Basel‐Vanagaite(9), Moshe Frydman(7), Karen B. Avraham(6), Bella Davidov(6), Zippora Brownstein(5), Gabrielle J. Halpern(5), Yehuda L. Danon(5), Moien Kanaan(5), Jerome I. Rotter(5), Ellen Taub(4), Daniel L. Kastner(4), Metsada Pasmanik‐Chor(4), Xavier Estivill(3), Valerie Drasinover(3), Arthur D. Schwabe(3), Amal Abu Rayyan(3), Dorit Lev(3), Amos Frisch(3)