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: TTN: 71602C>T; Arg23868Ter
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.
Circulation. Genomic And Precision Medicine
Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW
Publication Date: 2022-10-20
Variant appearance in text: TTN: Arg23868Ter; rs397517689
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Science (New York, N.Y.)
Reichart, Daniel D; Lindberg, Eric L EL; Maatz, Henrike H; Miranda, Antonio M A AMA; Viveiros, Anissa A; Shvetsov, Nikolay N; Gärtner, Anna A; Nadelmann, Emily R ER; Lee, Michael M; Kanemaru, Kazumasa K; Ruiz-Orera, Jorge J; Strohmenger, Viktoria V; DeLaughter, Daniel M DM; Patone, Giannino G; Zhang, Hao H; Woehler, Andrew A; Lippert, Christoph C; Kim, Yuri Y; Adami, Eleonora E; Gorham, Joshua M JM; Barnett, Sam N SN; Brown, Kemar K; Buchan, Rachel J RJ; Chowdhury, Rasheda A RA; Constantinou, Chrystalla C; Cranley, James J; Felkin, Leanne E LE; Fox, Henrik H; Ghauri, Ahla A; Gummert, Jan J; Kanda, Masatoshi M; Li, Ruoyan R; Mach, Lukas L; McDonough, Barbara B; Samari, Sara S; Shahriaran, Farnoush F; Yapp, Clarence C; Stanasiuk, Caroline C; Theotokis, Pantazis I PI; Theis, Fabian J FJ; van den Bogaerdt, Antoon A; Wakimoto, Hiroko H; Ware, James S JS; Worth, Catherine L CL; Barton, Paul J R PJR; Lee, Young-Ae YA; Teichmann, Sarah A SA; Milting, Hendrik H; Noseda, Michela M; Oudit, Gavin Y GY; Heinig, Matthias M; Seidman, Jonathan G JG; Hubner, Norbert N; Seidman, Christine E CE
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mazzarotto, Francesco F; Hawley, Megan H MH; Beltrami, Matteo M; Beekman, Leander L; de Marvao, Antonio A; McGurk, Kathryn A KA; Statton, Ben B; Boschi, Beatrice B; Girolami, Francesca F; Roberts, Angharad M AM; Lodder, Elisabeth M EM; Allouba, Mona M; Romeih, Soha S; Aguib, Yasmine Y; Baksi, A John AJ; Pantazis, Antonis A; Prasad, Sanjay K SK; Cerbai, Elisabetta E; Yacoub, Magdi H MH; O'Regan, Declan P DP; Cook, Stuart A SA; Ware, James S JS; Funke, Birgit B; Olivotto, Iacopo I; Bezzina, Connie R CR; Barton, Paul J R PJR; Walsh, Roddy R
Publication Date: 2021-05
Variant appearance in text: TTN: 71602C>T; Arg23868X
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.
Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA