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Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E; Mark, Paul; Harr, Margaret H; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; ... (2023). Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature Communications, 14(1), p. 4109. Springer Nature 10.1038/s41467-023-39645-5
Clark, David W; Okada, Yukinori; Moore, Kristjan H S; Mason, Dan; Pirastu, Nicola; Gandin, Ilaria; Mattsson, Hannele; Barnes, Catriona L K; Lin, Kuang; Zhao, Jing Hua; Deelen, Patrick; Rohde, Rebecca; Schurmann, Claudia; Guo, Xiuqing; Giulianini, Franco; Zhang, Weihua; Medina-Gomez, Carolina; Karlsson, Robert; Bao, Yanchun; Bartz, Traci M; ... (2019). Associations of autozygosity with a broad range of human phenotypes. Nature communications, 10(1), p. 4957. Nature Publishing Group 10.1038/s41467-019-12283-6
Schmidt, Amand F; Holmes, Michael V; Preiss, David; Swerdlow, Daniel I; Denaxas, Spiros; Fatemifar, Ghazaleh; Faraway, Rupert; Finan, Chris; Valentine, Dennis; Fairhurst-Hunter, Zammy; Hartwig, Fernando Pires; Horta, Bernardo Lessa; Hypponen, Elina; Power, Christine; Moldovan, Max; van Iperen, Erik; Hovingh, Kees; Demuth, Ilja; Norman, Kristina; Steinhagen-Thiessen, Elisabeth; ... (2019). Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9. BMC cardiovascular disorders, 19(1), p. 240. BioMed Central 10.1186/s12872-019-1187-z
Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K; Walters, Raymond K; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido J; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A; Ripke, Stephan; Wei, Zhi; Yu, Dongmei; Lee, Phil H; Turley, Patrick; Grenier-Boley, Benjamin; Chouraki, Vincent; Kamatani, Yoichiro; Berr, Claudine; ... (2018). Analysis of shared heritability in common disorders of the brain. Science, 360(6395) American Association for the Advancement of Science 10.1126/science.aap8757
Marenholz, Ingo; Esparza-Gordillo, Jorge; Rüschendorf, Franz; Bauerfeind, Anja; Strachan, David P; Spycher, Ben D; Baurecht, Hansjörg; Margaritte-Jeannin, Patricia; Sääf, Annika; Kerkhof, Marjan; Ege, Markus; Baltic, Svetlana; Matheson, Melanie C; Li, Jin; Michel, Sven; Ang, Wei Q; McArdle, Wendy; Arnold, Andreas; Homuth, Georg; Demenais, Florence; ... (2015). Meta-analysis identifies seven susceptibility loci involved in the atopic march. Nature communications, 6, p. 8804. Nature Publishing Group 10.1038/ncomms9804
Jostins, Luke; Ripke, Stephan; Weersma, Rinse K; Duerr, Richard H; McGovern, Dermot P; Hui, Ken Y; Lee, James C; Schumm, L Philip; Sharma, Yashoda; Anderson, Carl A; Essers, Jonah; Mitrovic, Mitja; Ning, Kaida; Cleynen, Isabelle; Theatre, Emilie; Spain, Sarah L; Raychaudhuri, Soumya; Goyette, Philippe; Wei, Zhi; Abraham, Clara; ... (2012). Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature, 491(7422), pp. 119-24. London: Macmillan Journals Ltd. 10.1038/nature11582
Anderson, Carl A; Boucher, Gabrielle; Lees, Charlie W; Franke, Andre; D'Amato, Mauro; Taylor, Kent D; Lee, James C; Goyette, Philippe; Imielinski, Marcin; Latiano, Anna; Lagacé, Caroline; Scott, Regan; Amininejad, Leila; Bumpstead, Suzannah; Baidoo, Leonard; Baldassano, Robert N; Barclay, Murray; Bayless, Theodore M; Brand, Stephan; Büning, Carsten; ... (2011). Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nature genetics, 43(3), pp. 246-52. New York, N.Y.: Nature America 10.1038/ng.764
Franke, Andre; McGovern, Dermot P B; Barrett, Jeffrey C; Wang, Kai; Radford-Smith, Graham L; Ahmad, Tariq; Lees, Charlie W; Balschun, Tobias; Lee, James; Roberts, Rebecca; Anderson, Carl A; Bis, Joshua C; Bumpstead, Suzanne; Ellinghaus, David; Festen, Eleonora M; Georges, Michel; Green, Todd; Haritunians, Talin; Jostins, Luke; Latiano, Anna; ... (2010). Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nature genetics, 42(12), pp. 1118-25. New York, N.Y.: Nature America 10.1038/ng.717