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

Caroline Schluth-Bolard; Flavie Diguet; Nicolas Chatron; Pierre-Antoine Rollat-Farnier; Claire Bardel; Alexandra Afenjar; Florence Amblard; Jeanne Amiel; Sophie Blesson; Patrick Callier; Yline Capri; Patrick Collignon; Marie-Pierre Cordier; Christine Coubes; Benedicte Demeer; Annabelle Chaussenot; Florence Demurger; Françoise Devillard; Martine Doco-Fenzy; Céline Dupont; Jean-Michel Dupont; Sophie Dupuis-Girod; Laurence Faivre; Brigitte Gilbert-Dussardier; Anne-Marie Guerrot; Marine Houlier; Bertrand Isidor; Sylvie Jaillard; Géraldine Joly-Hélas; Valérie Kremer; Didier Lacombe; Cédric Le Caignec; Aziza Lebbar; Marine Lebrun; Gaetan Lesca; James Lespinasse; Jonathan Levy; Valérie Malan; Michele Mathieu-Dramard; Julie Masson; Alice Masurel-Paulet; Cyril Mignot; Chantal Missirian; Fanny Morice-Picard; Sébastien Moutton; Gwenaël Nadeau; Céline Pebrel-Richard; Sylvie Odent; Véronique Paquis-Flucklinger; Laurent Pasquier; Nicole Philip; Morgane Plutino; Linda Pons; Marie-France Portnoï; Fabienne Prieur; Jacques Puechberty; Audrey Putoux; Marlène Rio; Caroline Rooryck-Thambo; Massimiliano Rossi; Catherine Sarret; Véronique Satre; Jean-Pierre Siffroi; Marianne Till; Renaud Touraine; Annick Toutain; Jérome Toutain; Stéphanie Valence; Alain Verloes; Sandra Whalen; Patrick Edery; Anne-Claude Tabet; Damien Sanlaville

doi:10.1136/jmedgenet-2018-105778

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Chromosomal rearrangements

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

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Cite this article as:: Schluth-Bolard C, Diguet F, Chatron N, et al

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

Journal of Medical Genetics 2019;56:526-535.

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