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Nature Genetics|February 27, 2019
Identification of common genetic risk variants for autism spectrum disorderJakob Grove, Stephan Ripke, Thomas D Als, et al.Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, et al.Nature|August 19, 2016
Analysis of protein-coding genetic variation in 60,706 humansMonkol Lek, Konrad J Karczewski, Eric V Minikel, et al.Nature Communications|August 10, 2016
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitisManuel A Rivas, Daniel Graham, Patrick Sulem, et al.Nature Genetics|November 28, 2018
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorderDitte Demontis, Raymond K Walters, Joanna Martin, et al.Nature Genetics|February 5, 2026
Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseasesSamantha L White, Maizy S Brasher, Jack Pattee, et al.Nature|September 15, 2016
High-throughput discovery of novel developmental phenotypesMary E Dickinson, Ann M Flenniken, Xiao Ji, et al.Nature|November 17, 2017
Corrigendum: High-throughput discovery of novel developmental phenotypesMary E Dickinson, Ann M Flenniken, Xiao Ji, et al.Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.Nature|September 3, 2010
Integrating common and rare genetic variation in diverse human populations, David M Altshuler, Richard A Gibbs, et al.Pageof 163