Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Tuyet Mai Nguyen Thi, Rebecca C Spillmann, Jennifer A Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martinez, Alfonso Caro-Llopis Show all
American Journal of Human Genetics | CELL PRESS | Published : 2019
Awarded by Instituto de Salud Carlos III - Accion Estrategica en Salud 2013-2016; FEDER -Fondo Europeo de Desarrollo Regional
Awarded by NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director
Awarded by NATIONAL HUMAN GENOME RESEARCH INSTITUTE
We thank the affected individuals and their families for their participation in this study. We thank Xinyu Cao from Duke for technical support for the mRNA expression analysis. We thank the CIHR and Fonds de recherche du Quebec - Sante (FRQS), Canada for clinician-scientist awards to P.M.C. Spanish individuals' study was supported by grant PI14/00350 (Instituto de Salud Carlos III - Accion Estrategica en Salud 2013-2016; FEDER -Fondo Europeo de Desarrollo Regional). Individual 10 was evaluated through the Duke Genome Sequencing Clinic, supported by the Duke University Health system, and partially funded by UCB Cell-tech. Partial research reported in this manuscript was supported by the NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director under award numbers U01HG007672 (Duke University) and U01HG007942 (Baylor College of Medicine-Sequencing). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.