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

Caroline Schluth-Bolard 1, * Flavie Diguet Nicolas Chatron 2 Pierre-Antoine Rollat-Farnier Claire Bardel 3 Alexandra Afenjar 4 Florence Amblard 5 Jeanne Amiel 6 Sophie Blesson 7 Patrick Callier 8 Yline Capri 9 Patrick Collignon 10 Marie-Pierre Cordier 11 Christine Coubes 12 Bénédicte Demeer 13 Annabelle Chaussenot 14 Florence Demurger 15 Françoise Devillard 16 Martine Doco-Fenzy 17 Celine Dupont 18 Jean-Michel Dupont 19 Sophie Dupuis-Girod 20 Laurence Faivre 8 Brigitte Gilbert-Dussardier 21 Anne-Marie Guerrot 22 Marine Houlier 6 Bertrand Isidor 23 Sylvie Jaillard 24, 25 Géraldine Joly-Helas 26 Valérie Kremer Didier Lacombe 27 Cedric Le Caignec 23 Aziza Lebbar 19 Marine Lebrun 28 Gaetan Lesca 29 James Lespinasse 30 Jonathan Levy 31 Valérie Malan 32 Michèle Mathieu-Dramard 13 Julie Masson Alice Masurel-Paulet 8 Cyril Mignot 33 Chantal Missirian 34, 35 Fanny Morice-Picard 36 Sébastien Moutton 27 Gwenaël Nadeau 37 Céline Pebrel-Richard 38 Sylvie Odent 39 Véronique Paquis-Flucklinger 14 Laurent Pasquier Nicole Philip 35, 34 Morgane Plutino 40 Linda Pons 20 Marie-France Portnoi 41 Fabienne Prieur 42 Jacques Puechberty 43 Audrey Putoux 44 Marlène Rio 6 Caroline Rooryck-Thambo 45 Massimiliano Rossi 46 Catherine Sarret 47 Veronique Satre 48 Jean-Pierre Siffroi 49 Marianne Till 50 Renaud Touraine 51 Annick Toutain 52 Jérôme Toutain 45 Stephanie Valence 4 Alain Verloes 53 Sandra Whalen Patrick Edery 50 Anne-Claude Tabet 54 Damien Sanlaville 46
* Corresponding author
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https://hal.archives-ouvertes.fr/hal-02097116
Contributor : Catherine Sarret <>
Submitted on : Thursday, April 11, 2019 - 6:24:03 PM
Last modification on : Wednesday, September 15, 2021 - 11:26:04 AM

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Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, 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, BMJ Publishing Group, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩. ⟨hal-02097116⟩

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