Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Pawel Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L Kember, Francesca Mari Show all
Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2019
Awarded by NIH
Awarded by Brain and Behavior Foundation
Awarded by SFARI Pilot Grant
Awarded by Swiss National Science Foundation
This work was supported by NIH R01-GM121907, Brain and Behavior Foundation (NARSAD 22535), SFARI Pilot Grant (SFARI 399894, S.G.) and resources from the Huck Institutes of the Life Sciences to S.G. L.P. was supported by Fulbright Commission Uruguay-ANII and the Huck Institutes of the Life Sciences. M.J. was supported by NIH T32-GM102057. C.R., L.C., O.G., and E.A. were supported by the Italian Ministry of Health and "5 per mille" funding. K.M. is a Jacobs Foundation Research Fellow. A.R. is supported by the Swiss National Science Foundation (31003A_160203). Dedicated to the memory of Ethan Francis Schwartz, 1996-1998. We are grateful to all of the families in each cohort (16p12.1 deletion, SVIP and SSC) who participated in the study. We thank the SSC principal investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E. Hanson, D. Grice, A. Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren, E. Wijsman) as well as the Simons VIP Consortium. We appreciate obtaining access to genomic and phenotypic data on SFARI Base. Approved researchers can obtain the SSC and SVIP population data sets described in this study by applying at https://www.base.sfari.org.