Article
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019
Pizzo Lucilla, Jensen Matthew, Polyak Andrew, Rosenfeld Jill A, Mannik Katrin, Krishnan Arjun, McCready Elizabeth, Pichon Olivier, Le Caignec Cedric, Van Dijck Anke, Pope Kate, Voorhoeve Els, Yoon Jieun, Stankiewicz Paweł, Cheung Sau Wai, Pazuchanics Damian, Huber Emily, Kumar Vijay, Kember Rachel L, 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 J M, 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 J, Andrieux Joris, Girirajan Santhosh
Abstract excerpt
PURPOSE: 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. METHODS: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. RESULTS: The number of...
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