André Mégarbané

André Mégarbané 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 André Mégarbané sits on this spectrum.

André Mégarbané 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 André Mégarbané sits on this spectrum.

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