Litcius/Paper detail

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia, Berrak Uğur, Jeremy Wegner, Tiana M. Scott, Brett Bostwick, David R. Murdock, Hongzheng Dai, Elena Perenthaler, Anita Nikoncuk, Marjon van Slegtenhorst, Alice S. Brooks, Boris Keren, Caroline Nava, Cyril Mignot, Jessica Douglas, Lance H. Rodan, C. Nowak, Sian Ellard, Karen Stals, Sally Ann Lynch, Marie Faoucher, Gaëtan Lesca, Patrick Edery, Kendra Engleman, Dihong Zhou, Isabelle Thiffault, John Herriges, Jennifer Gass, Raymond J. Louie, Elliot Stolerman, Camerun Washington, Francesco Vetrini, Aiko Iwata‐Otsubo, Victoria M. Pratt, Erin Conboy, Kayla Treat, Nora Shannon, Jose A. Camacho, Emma Wakeling, Bo Yuan, Chun‐An Chen, Jill A. Rosenfeld, Monte Westerfield, Michael F. Wangler, Shinya Yamamoto, Cigall Kadoch, Daryl A. Scott, Hugo J. Bellen

2020The American Journal of Human Genetics48 citationsDOIOpen Access PDF

Topics & Concepts

GeneticsHaploinsufficiencyBiologyPhenotypeSWI/SNFZebrafishLoss functionChromatin remodelingMissense mutationIntellectual disabilityGeneChromatinChromatin Remodeling and CancerGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders