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: EGFR: 1283G>A; Gly428Asp
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.
Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.
Molecular Genetics & Genomic Medicine
Ganetzky, Rebecca R; Finn, Erin E; Bagchi, Atrish A; Zollo, Ornella O; Conlin, Laura L; Deardorff, Matthew M; Harr, Margaret M; Simpson, Michael A MA; McGrath, John A JA; Zackai, Elaine E; Lemmon, Mark A MA; Sondheimer, Neal N
Publication Date: 2015-09
Variant appearance in text: EGFR: 1283G>A; Gly428Asp
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
The Journal Of Investigative Dermatology
Campbell, Patrick P; Morton, Penny E PE; Takeichi, Takuya T; Salam, Amr A; Roberts, Nerys N; Proudfoot, Laura E LE; Mellerio, Jemima E JE; Aminu, Kingi K; Wellington, Cheryl C; Patil, Sachin N SN; Akiyama, Masashi M; Liu, Lu L; McMillan, James R JR; Aristodemou, Sophia S; Ishida-Yamamoto, Akemi A; Abdul-Wahab, Alya A; Petrof, Gabriela G; Fong, Kenneth K; Harnchoowong, Sarawin S; Stone, Kristina L KL; Harper, John I JI; Irwin McLean, W H WH; Simpson, Michael A MA; Parsons, Maddy M; McGrath, John A JA
Publication Date: 2014-10
Variant appearance in text: EGFR: 1283G>A; Gly428Asp