Monsieur Ghadi RAI / Docteur

Production scientifique

• Identification of splicing defects caused by mutations in the dysferlin gene.
  Human Mutation, 2014
  Virginie Kergourlay, Ghadi Rai, Gaelle Blandin, David Salgado, Christophe Béroud, Nicolas Lévy, Martin Krahn, and Marc Bartoli
  http://onlinelibrary.wiley.com/doi/10.1002/humu.22710/epdf
  
• UMD-Predictor: A High-Throughput Sequencing CompliantSystem for Pathogenicity Prediction of any Human cDNASubstitution
  Human Mutation, 2016
  David Salgado, Jean-Pierre Desvignes, Ghadi Rai, Arnaud Blanchard, Morgane Miltgen, Amélie Pinard, Nicolas Lévy, Gwenaëlle Collod-Béroud, Christophe Béroud
  http://onlinelibrary.wiley.com/doi/10.1002/humu.22965/epdf
  
• Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
  Movement Disorders, 2016
  Morgane Miltgen, Arnaud Blanchard, Hélène Mathieu, Alexandre Kreisler, Jean-Pierre Desvignes, David Salgado, Agathe Roubertie, Laura Barre, Ghadi Rai, Veronique Blanck, Melissa Frederic, Xavier Douay, Ronald Mazzoleni, Pierre Charpentier, Victoria Gonzalez, Alain Destee, Christophe Beroud, Gwenaelle Collod-Beroud
  http://onlinelibrary.wiley.com/doi/10.1002/mds.26717/epdf
  
• BRCA Share: A Collection of Clinical BRCA Gene Variants
  Human Mutation, 2016
  Christophe Beroud, Stanley I. Letovsky, Corey D. Braastad, Sandrine M. Caputo, Yves Jean Bignon, Brigitte Bressac-De Paillerets, Myriam Bronner, Crystal M. Buell, Gwenaëlle Collod-Béroud, Florence Coulet, Nicolas Derive, Christina Divincenzo, Christopher D. Elzinga, Claude Houdayer, Izabela Karbassi, Sarab Lizard, Angela Love, Danièle Muller, Narasimhan Nagan, Camille R. Nery, Ghadi Rai, Françoise Revillion, David Salgado, Olga Sinilnikova, Hagay Sobol, Dominique Stoppa-Lyonnet, Edwin Trautman, Dominique Vaur, Paul Vilquin, Katelyn S. Weymouth, Laboratory Corporation of America Variant Classification Group, Quest Diagnostics Variant Classification Group, UNICANCER Genetic Group BRCA Laboratory Network, Marcia Eisenberg, Charles M Strom