Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Schluth-Bolard, Caroline; Diguet, Flavie; Chatron, Nicolas; Rollat-Farnier, Pierre-Antoine; Bardel, Claire; Afenjar, Alexandra; Amblard, Florence; Amiel, Jeanne; Blesson, Sophie; Callier, Patrick; Capri, Yline; Collignon, Patrick; Cordier, Marie-Pierre; Coubes, Christine; Demeer, Benedicte; Chaussenot, Annabelle; Demurger, Florence; Devillard, Françoise; Doco-Fenzy, Martine; Dupont, Céline; Dupont, Jean-Michel; Dupuis-Girod, Sophie; Faivre, Laurence; Gilbert-Dussardier, Brigitte; Guerrot, Anne-Marie; Houlier, Marine; Isidor, Bertrand; Jaillard, Sylvie; Joly-Hélas, Géraldine; Kremer, Valérie; Lacombe, Didier; Le Caignec, Cédric; Lebbar, Aziza; Lebrun, Marine; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Malan, Valérie; Mathieu-Dramard, Michele; Masson, Julie; Masurel-Paulet, Alice; Mignot, Cyril; Missirian, Chantal; Morice-Picard, Fanny; Moutton, Sébastien; Nadeau, Gwenaël; Pebrel-Richard, Céline; Odent, Sylvie; Paquis-Flucklinger, Véronique; Pasquier, Laurent.
J Med Genet; 56(8): 526-535, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30923172

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