Mordechai Shohat

Overview

Best Publications

• Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever

  I. Aksentijevich;M. Centola;Z. M. Deng;R. Sood

  2066
  Citations

• Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.

  T R Prezant;J V Agapian;M C Bohlman;X Bu

  1631
  Citations

• Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans

  Leopoldo Zelante;Paolo Gasparini;Xavier Estivill;Salvatore Melchionda

  877
  Citations

• Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

  Paulina Navon Elkan;Sarah B. Pierce;Reeval Segel;Reeval Segel;Tom Walsh

  720
  Citations

• The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

  Jan O. Korbel;Tal Tirosh-Wagner;Alexander Eckehart Urban;Xiao Ning Chen

  442
  Citations

• Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families.

  Ephrat Levy-Lahad;Raphael Catane;Shlomit Eisenberg;Bella Kaufman

  389
  Citations

• Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

  Ignacio Del Castillo;Miguel A. Moreno-Pelayo;Francisco J. Del Castillo;Zippora Brownstein

  365
  Citations

• Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.

  M Shohat;N Magal;T Shohat;X Chen

  266
  Citations

• Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

  Min-Xin Guan;Min-Xin Guan;Qingfeng Yan;Xiaoming Li;Yelena Bykhovskaya

  266
  Citations

• Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.

  Zippora Brownstein;Lilach M Friedman;Hashem Shahin;Varda Oron-Karni

  236
  Citations

• Familial Central Precocious Puberty Suggests Autosomal Dominant Inheritance

  Liat de Vries;Arieh Kauschansky;Mordechai Shohat;Moshe Phillip

  230
  Citations

• The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.

  Tama Sobe;Sarah Vreugde;Hashem Shahin;Mira Berlin

  218
  Citations

• Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

  Hagit Toledano-Alhadef;Lina Basel-Vanagaite;Nurit Magal;Bella Davidov

  216
  Citations

• Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

  Ann Saada;Rutger O. Vogel;Saskia J. Hoefs;Mariël A. van den Brand

  213
  Citations

• The CC2D1A , a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

  Lina Basel-Vanagaite;Revital Attia;Michal Yahav;Russell J. Ferland

  213
  Citations

• Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

  Lina Basel-Vanagaite;Lina Basel-Vanagaite;Revital Attia;Akemi Ishida-Yamamoto;Limor Rainshtein

  206
  Citations

• Familial Mediterranean fever—A review

  Mordechai Shohat;Gabrielle J Halpern

  190
  Citations

• Familial Mediterranean fever: High gene frequency among the non‐Ashkenazic and ashkenazic Jewish populations in Israel

  M Daniels;T Shohat;A Brenner-Ullman;M Shohat

  183
  Citations

• Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome.

  Doron Gothelf;Gadi Presburger;Ada H. Zohar;Merav Burg

  181
  Citations

• Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups.

  N Stoffman;N Magal;T Shohat;R Lotan

  175
  Citations