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Gastroenterology|July 6, 2016
A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSFLing-Shiang Chuang, Nicole Villaverde, Ken Y Hui, et al.Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populationsMarina Natividad Avila, Seulgi Jung, F Kyle Satterstrom, et al.Science Translational Medicine|January 22, 2016
Quantifying prion disease penetrance using large population control cohortsEric Vallabh Minikel, Sonia M Vallabh, Monkol Lek, et al.Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.Nature Genetics|August 20, 2008
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorderManuel A R Ferreira, Michael C O'Donovan, Yan A Meng, et al.Nature|February 19, 2010
The landscape of somatic copy-number alteration across human cancersRameen Beroukhim, Craig H Mermel, Dale Porter, et al.American Journal of Human Genetics|February 18, 2021
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel diseaseHari K Somineni, Sini Nagpal, Suresh Venkateswaran, et al.Science (New York, N.Y.)|April 28, 2007
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels, Richa Saxena, Benjamin F Voight, et al.Nature Genetics|November 10, 2009
Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis riskSoumya Raychaudhuri, Brian P Thomson, Elaine F Remmers, et al.Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
Exome sequencing directly implicates 68 genes in inflammatory bowel diseaseRuifei Zhu, Qian Zhang, Kai Yuan, et al.Pageof 163