Intellectual deficiency

  • Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
    Martin Chevarin, Yannis Duffourd, Rebecca A. Barnard, Sébastien Moutton, François Lecoquierre, Fatma Daoud, Paul Kuentz, Caroline Cabret, Julien Thevenon, Elodie Gautier, Patrick Callier, Judith St-Onge, Thibaud Jouan, Didier Lacombe, Marie Ange Delrue, Cyril Goizet, Fanny Morice-Picard, Julien Van-Gils, Arnold Munnich, Stanislas Lyonnet, Valérie Cormier-Daire, Geneviève Baujat, Muriel Holder, Florence Petit, Bruno Leheup, Sylvie Odent, Pierre-Simon Jouk, Gipsy Lopez, David Geneviève, Patrick Collignon, Dominique Martin-Coignard, Aurélia Jacquette, Laurence Perrin, Audrey Putoux, Elisabeth Sarrazin, Khadija Amarof, Isabelle Missotte, Christine Coubes, Sujatha Jagadeesh, Elisabetta Lapi, Florence Demurger, Alice Goldenberg, Martine Doco-Fenzy, Cyril Mignot, Delphine Héron, Nolwenn Jean-Marçais, Alice Masurel, Salima El Chehadeh, Nathalie Marle, Frédéric Huet, Christine Binquet, Gwenaëlle Collod-Beroud, Pauline Arnaud, Nadine Hanna, Catherine Boileau, Guillaume Jondeau, Robert Olaso, Doris Lechner, Charlotte Poe, Mirna Assoum, Virginie Carmignac, Laurence Duplomb, Frédéric Tran Mau-Them, Christophe Philippe, Antonio Vitobello, Ange-Line Bruel, Anne Boland, Jean-François Deleuze, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Brian J O'Roak, Laurence Faivre
  • Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
    Caroline Schluth-Bolard, Audrey Labalme, Marie-Pierre Cordier, Marianne Till, Gwenaël Nadeau, Hélène Tevissen, Gaétan Lesca, Nadia Boutry-Kryza, Sylvie Rossignol, Delphine Rocas, Estelle Dubruc, Patrick Edery, Damien Sanlaville