Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

Robert Davies , Ania Fiksinski , Elemi Breetvelt , Nigel Williams , Stephen Hooper , Thomas Monfeuga , Anne Bassett , Michael Owen , Raquel Gur , Bernice Morrow , Donna Mcdonald-Mcginn , Ann Swillen , Eva Chow , Marianne van den Bree , Beverly Emanuel , Joris Vermeesch , Therese van Amelsvoort , Celso Arango , Marco Armando , Linda Campbell , Joseph Cubells , Stephan Eliez , Sixto Garcia-Minaur , Doron Gothelf , Wendy Kates , Kieran Murphy , Clodagh Murphy , Declan Murphy , Nicole Philip (1, 2) , Gabriela Repetto , Vandana Shashi , Tony Simon , Damiàn Heine Suñer , Stefano Vicari , Stephen Scherer , Carrie Bearden , Jacob Vorstman

1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
2 Département de génétique médicale [Hôpital de la Timone - APHM]

Domaines: Sciences du Vivant [q-bio]; Génétique humaine

Robert Davies, Ania Fiksinski, Elemi Breetvelt, Nigel Williams, Stephen Hooper, et al.. Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome. Nature Medicine, 2020, 26 (12), pp.1912-1918. ⟨10.1038/s41591-020-1103-1⟩. ⟨hal-03222249⟩