Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01
Variant appearance in text: SCN5A: 1153G>A; Ala385Thr
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
Npj Genomic Medicine
Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M
Publication Date: 2020
Variant appearance in text: SCN5A: 1153G>A; Ala385Thr
Genomic characterization of malignant progression in neoplastic pancreatic cysts.
Nature Communications
Noë, Michaël M; Niknafs, Noushin N; Fischer, Catherine G CG; Hackeng, Wenzel M WM; Beleva Guthrie, Violeta V; Hosoda, Waki W; Debeljak, Marija M; Papp, Eniko E; Adleff, Vilmos V; White, James R JR; Luchini, Claudio C; Pea, Antonio A; Scarpa, Aldo A; Butturini, Giovanni G; Zamboni, Giuseppe G; Castelli, Paola P; Hong, Seung-Mo SM; Yachida, Shinichi S; Hiraoka, Nobuyoshi N; Gill, Anthony J AJ; Samra, Jaswinder S JS; Offerhaus, G Johan A GJA; Hoorens, Anne A; Verheij, Joanne J; Jansen, Casper C; Adsay, N Volkan NV; Jiang, Wei W; Winter, Jordan J; Albores-Saavedra, Jorge J; Terris, Benoit B; Thompson, Elizabeth D ED; Roberts, Nicholas J NJ; Hruban, Ralph H RH; Karchin, Rachel R; Scharpf, Robert B RB; Brosens, Lodewijk A A LAA; Velculescu, Victor E VE; Wood, Laura D LD
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.
Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes.
Plos One
Behr, Elijah R ER; Ritchie, Marylyn D MD; Tanaka, Toshihiro T; Kääb, Stefan S; Crawford, Dana C DC; Nicoletti, Paola P; Floratos, Aris A; Sinner, Moritz F MF; Kannankeril, Prince J PJ; Wilde, Arthur A M AA; Bezzina, Connie R CR; Schulze-Bahr, Eric E; Zumhagen, Sven S; Guicheney, Pascale P; Bishopric, Nanette H NH; Marshall, Vanessa V; Shakir, Saad S; Dalageorgou, Chrysoula C; Bevan, Steve S; Jamshidi, Yalda Y; Bastiaenen, Rachel R; Myerburg, Robert J RJ; Schott, Jean-Jacques JJ; Camm, A John AJ; Steinbeck, Gerhard G; Norris, Kris K; Altman, Russ B RB; Tatonetti, Nicholas P NP; Jeffery, Steve S; Kubo, Michiaki M; Nakamura, Yusuke Y; Shen, Yufeng Y; George, Alfred L AL; Roden, Dan M DM