Mordechai Shohat

Mordechai Shohat publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Mordechai Shohat sits on this spectrum.

Mordechai Shohat D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Mordechai Shohat sits on this spectrum.

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