Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations

C. Schluth-Bolard , F. Diguet , P. A. Rollat-Farnier , J. Amiel , M. A. Belaud-Rotureau , B. Benzacken , P. Callier , N. Chatron , P. Collignon , Bénédicte Demeer (1) , M. Doco-Fenzy , L. Faivre , B. Gilbert-Dussardier , A. M. Guerrot , S. Jaillard , B. Keren , V. Kremer , D. Lacombe , A. Lebbar , C. Le Caignec , J. Lespinasse , V. Malan , M. Mathieu-Dramard , C. Missirian , A. Moncla , S. Odent , C. Pebrel-Richard , V. Paquis , M. F. Portnoi , J. Puechberty , C. Rooryck-Thambo , V. Satre , A. C. Tabet , R. Touraine , A. Toutain , M. Vekemans , A. Verloes , P. Edery , D. Sanlaville

1 CHIMERE - CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516

Domaines: Sciences du Vivant [q-bio]

C. Schluth-Bolard, F. Diguet, P. A. Rollat-Farnier, J. Amiel, M. A. Belaud-Rotureau, et al.. Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations. European Journal of Human Genetics, 2018, 26 (S), pp.628-629. ⟨hal-03600552⟩