Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: KEAP1: 1437C>T; Asp479=
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13
Variant appearance in text: KEAP1: D479D; rs35074907
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
Nature Genetics
Ellinghaus, David D; Jostins, Luke L; Spain, Sarah L SL; Cortes, Adrian A; Bethune, Jörn J; Han, Buhm B; Park, Yu Rang YR; Raychaudhuri, Soumya S; Pouget, Jennie G JG; Hübenthal, Matthias M; Folseraas, Trine T; Wang, Yunpeng Y; Esko, Tonu T; Metspalu, Andres A; Westra, Harm-Jan HJ; Franke, Lude L; Pers, Tune H TH; Weersma, Rinse K RK; Collij, Valerie V; D'Amato, Mauro M; Halfvarson, Jonas J; Jensen, Anders Boeck AB; Lieb, Wolfgang W; Degenhardt, Franziska F; Forstner, Andreas J AJ; Hofmann, Andrea A; , ; , ; , ; , ; , ; Schreiber, Stefan S; Mrowietz, Ulrich U; Juran, Brian D BD; Lazaridis, Konstantinos N KN; Brunak, Søren S; Dale, Anders M AM; Trembath, Richard C RC; Weidinger, Stephan S; Weichenthal, Michael M; Ellinghaus, Eva E; Elder, James T JT; Barker, Jonathan N W N JN; Andreassen, Ole A OA; McGovern, Dermot P DP; Karlsen, Tom H TH; Barrett, Jeffrey C JC; Parkes, Miles M; Brown, Matthew A MA; Franke, Andre A
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24
Variant appearance in text: KEAP1: 1437C>T; rs35074907
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: KEAP1: D479D; rs35074907