Elon Pras

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

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

  N Zaks;JE Balow;E Mansfield;M. E. Mangelsdorf

  1044
  Citations

• A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

  Hadas Lahat;Elon Pras;Tsviya Olender;Nili Avidan

  885
  Citations

• Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

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

  720
  Citations

• Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

  Ivona Aksentijevich;Yelizaveta Torosyan;Jonathan Samuels;Michael Centola

  394
  Citations

• Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome.

  Shai Padeh;Naphtali Brezniak;Debora Zemer;Elon Pras

  392
  Citations

• Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

  Lídia Feliubadaló;Mariona Font;Jesús Purroy;Ferran Rousaud

  377
  Citations

• Autosomal Recessive Catecholamine- or Exercise-Induced Polymorphic Ventricular Tachycardia Clinical Features and Assignment of the Disease Gene to Chromosome 1p13-21

  Hadas Lahat;Michael Eldar;Etgar Levy-Nissenbaum;Tangiz Bahan

  355
  Citations

• Clinical differences between North African and Iraqi Jews with familial Mediterranean fever.

  Pras E;Livneh A;Balow Je;Kastner Dl

  347
  Citations

• Mapping of a Gene Causing Familial Mediterranean Fever to the Short Arm of Chromosome 16

  Elon Pras;Ivona Aksentijevich;Luis Gruberg;James E. Balow

  346
  Citations

• Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

  Xiaolin Zhu;Slavé Petrovski;Slavé Petrovski;Pingxing Xie;Pingxing Xie;Elizabeth K. Ruzzo

  343
  Citations

• Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers: A Need for a New Classification

  Luca Dello Strologo;Elon Pras;Claudia Pontesilli;Ercole Beccia

  334
  Citations

• MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever.

  Avi Livneh;Pnina Langevitz;Yael Shinar;Nurit Zaks

  254
  Citations

• Clinical disease among patients heterozygous for familial Mediterranean fever.

  Dina Marek-Yagel;Yackov Berkun;Shai Padeh;Almogit Abu

  233
  Citations

• Point Mutation in the HCN4 Cardiac Ion Channel Pore Affecting Synthesis, Trafficking, and Functional Expression Is Associated With Familial Asymptomatic Sinus Bradycardia

  Eyal Nof;David Luria;Dovrat Brass;Dina Marek

  220
  Citations

• Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

  Etgar Levy-Nissenbaum;Regina C Betz;Moshe Frydman;Michel Simon

  212
  Citations

• Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

  Elizabeth K. Ruzzo;José-Mario Capo-Chichi;Bruria Ben-Zeev;Bruria Ben-Zeev;David Chitayat

  195
  Citations

• Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

  Danit Oz-Levi;Bruria Ben-Zeev;Bruria Ben-Zeev;Elizabeth K. Ruzzo;Yuki Hitomi

  171
  Citations

• Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

  Jianjun Chen;Zhiwei Ma;Xiaodong Jiao;Robert Fariss

  156
  Citations

• Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever.

  Y Shinar;A Livneh;P Langevitz;N Zaks

  153
  Citations