Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2022-08-30
Variant appearance in text: SCN5A: 3724G>A; Asp1242Asn; rs199473599
Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.
Frontiers In Genetics
Chen, Ching-Yu Julius CJ; Lu, Tzu-Pin TP; Lin, Lian-Yu LY; Liu, Yen-Bin YB; Ho, Li-Ting LT; Huang, Hui-Chun HC; Lai, Ling-Ping LP; Hwang, Juey-Jen JJ; Yeh, Shih-Fan Sherri SS; Wu, Cho-Kai CK; Juang, Jyh-Ming Jimmy JJ; Antzelevitch, Charles C
Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.
Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10
Variant appearance in text: SCN5A: D1242N; rs199473599
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
Jama
Van Driest, Sara L SL; Wells, Quinn S QS; Stallings, Sarah S; Bush, William S WS; Gordon, Adam A; Nickerson, Deborah A DA; Kim, Jerry H JH; Crosslin, David R DR; Jarvik, Gail P GP; Carrell, David S DS; Ralston, James D JD; Larson, Eric B EB; Bielinski, Suzette J SJ; Olson, Janet E JE; Ye, Zi Z; Kullo, Iftikhar J IJ; Abul-Husn, Noura S NS; Scott, Stuart A SA; Bottinger, Erwin E; Almoguera, Berta B; Connolly, John J; Chiavacci, Rosetta R; Hakonarson, Hakon H; Rasmussen-Torvik, Laura J LJ; Pan, Vivian V; Persell, Stephen D SD; Smith, Maureen M; Chisholm, Rex L RL; Kitchner, Terrie E TE; He, Max M MM; Brilliant, Murray H MH; Wallace, John R JR; Doheny, Kimberly F KF; Shoemaker, M Benjamin MB; Li, Rongling R; Manolio, Teri A TA; Callis, Thomas E TE; Macaya, Daniela D; Williams, Marc S MS; Carey, David D; Kapplinger, Jamie D JD; Ackerman, Michael J MJ; Ritchie, Marylyn D MD; Denny, Joshua C JC; Roden, Dan M DM