Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: KCNH2: 1681G>C; Ala561Pro
R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome.
Scientific Reports
Mesquita, Fernanda C P FCP; Arantes, Paulo C PC; Kasai-Brunswick, Tais H TH; Araujo, Dayana S DS; Gubert, Fernanda F; Monnerat, Gustavo G; Silva Dos Santos, Danúbia D; Neiman, Gabriel G; Leitão, Isabela C IC; Barbosa, Raiana A Q RAQ; Coutinho, Jorge L JL; Vaz, Isadora M IM; Dos Santos, Marcus N MN; Borgonovo, Tamara T; Cruz, Fernando E S FES; Miriuka, Santiago S; Medei, Emiliano H EH; Campos de Carvalho, Antonio C AC; Carvalho, Adriana B AB
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs.
Plos One
Samol, Alexander A; Gönes, Mehmet M; Zumhagen, Sven S; Bruns, Hans-Jürgen HJ; Paul, Matthias M; Vahlhaus, Christian C; Waltenberger, Johannes J; Schulze-Bahr, Eric E; Eckardt, Lars L; Mönnig, Gerold G
Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine-Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome.