Most genetic risk for autism resides with common variationTrent Gaugler, Joseph D. Buxbaum, Pamela Sklar et al.|Nature Genetics|2014Cited by 1.3k
Loss of function mutation in <i>LOX</i> causes thoracic aortic aneurysm and dissection in humansVivian S. Lee, Haiyan Qiu, Carmen M. Halabi et al.|Proceedings of the National Academy of Sciences|2016Cited by 184
A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control StudiesCorneliu Bodea, Gillian Mahy, Benjamin M. Neale et al.|The American Journal of Human Genetics|2016Cited by 26
Variants in <i>STXBP3</i> are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune DysregulationJodie Ouahed, Scott B. Snapper, Judith R. Kelsen et al.|Journal of Crohn s and Colitis|2021Cited by 17
25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSSJudith R. Kelsen, Claudio G. Giraudo, Jodie Ouahed et al.|Gastroenterology|2018Cited by 2