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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

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Pizzo, Lucilla | Jensen, Matthew | Polyak, Andrew | Rosenfeld, Jill | Männik, Katrin | Krishnan, Arjun | Mccready, Elizabeth | Pichon, Olivier | Le Caignec, Cédric | van Dijck, Anke | Pope, Kate | Voorhoeve, Els | Yoon, Jieun | Stankiewicz, Paweł | Cheung, Sau Wai | Pazuchanics, Damian | Huber, Emily | Kumar, Vijay | Kember, Rachel | Mari, Francesca | Curró, Aurora | Castiglia, Lucia | Galesi, Ornella | Avola, Emanuela | Mattina, Teresa | Fichera, Marco | Mandarà, Luana | Vincent, Marie | Nizon, Mathilde | Mercier, Sandra | Bénéteau, Claire | Blesson, Sophie | Martin-Coignard, Dominique | Mosca-Boidron, Anne-Laure | Caberg, Jean-Hubert | Bucan, Maja | Zeesman, Susan | Nowaczyk, Małgorzata | Lefebvre, Mathilde | Faivre, Laurence | Callier, Patrick | Skinner, Cindy | Keren, Boris | Perrine, Charles | Prontera, Paolo | Marle, Nathalie | Renieri, Alessandra | Reymond, Alexandre | Kooy, R Frank | Isidor, Bertrand | Schwartz, Charles | Romano, Corrado | Sistermans, Erik | Amor, David | Andrieux, Joris | Girirajan, Santhosh

Edité par CCSD ; Nature Publishing Group -

IF 9.937 (2017). International audience. To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants.

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