André Mégarbané

Overview

Best Publications

• Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

  Jocelyne Magré;Marc Delépine;Eliane Khallouf;Tobias Gedde-Dahl

  829
  Citations

• Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

  Anita Rauch;Christian T. Thiel;Detlev Schindler;Ursula Wick

  449
  Citations

• Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

  Hanan Hamamy;Stylianos E. Antonarakis;Luigi Luca Cavalli-Sforza;Samia Temtamy

  418
  Citations

• Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

  Eva Klopocki;Harald Schulze;Gabriele Strauß;Claus-Eric Ott

  353
  Citations

• The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome

  André Mégarbané;Aimé Ravel;Clotilde Mircher;Franck Sturtz

  344
  Citations

• BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

  Corinne Stoetzel;Virginie Laurier;Erica E. Davis;Jean Muller

  340
  Citations

• ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

  Nathalie Dagoneau;Catherine Benoist-Lasselin;Céline Huber;Laurence Faivre

  320
  Citations

• Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

  Anja Brehm;Yin Liu;Afzal Sheikh;Bernadette Marrero

  315
  Citations

• Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation

  Seth L. Masters;Seth L. Masters;Vasiliki Lagou;Isabelle Jéru;Isabelle Jéru;Paul J. Baker;Paul J. Baker

  309
  Citations

• Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

  L. Van Maldergem;J. Magre;T. E. Khallouf;T. Gedde-Dahl

  306
  Citations

• Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

  Lynn Adaimy;Eliane Chouery;Hala Mégarbané;Salman Mroueh

  280
  Citations

• Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

  Lesley McGregor;Vile Makela;Susan M. Darling;Susan M. Darling;Sofia Vrontou

  272
  Citations

• Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

  Geneviève Bernard;Geneviève Bernard;Eliane Chouery;Maria Lisa Putorti;Martine Tétreault

  260
  Citations

• A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease

  Angèle Guilbot;Anna Williams;Nicole Ravisé;Christophe Verny

  252
  Citations

• Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

  Irene A Aligianis;Colin A Johnson;Paul Gissen;Dongrong Chen

  251
  Citations

• Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

  L Van Maldergem;H A Siitonen;N Jalkh;E Chouery

  245
  Citations

• Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

  Carine Le Goff;Clémentine Mahaut;Lauren W Wang;Slimane Allali

  229
  Citations

• Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease

  Hui Liu;Loubna El Zein;Martin Kruse;Romain Guinamard

  228
  Citations

• Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

  Caroline Lefèvre;Bakar Bouadjar;Véronique Ferrand;Gianluca Tadini

  221
  Citations

• Familial Autoinflammation with Neutrophilic Dermatosis Reveals a Novel Regulatory Mechanism of Pyrin Activation

  P. J. Baker;V. Lagou;I. Jeru;L. Van Eyck

  1
  Citations