The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30
Variant appearance in text: NOTCH4: 739G>C; Gly247Arg; rs8192586
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: NOTCH4: G247R; rs8192586
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.
Nature Genetics
Toy, Weiyi W; Shen, Yang Y; Won, Helen H; Green, Bradley B; Sakr, Rita A RA; Will, Marie M; Li, Zhiqiang Z; Gala, Kinisha K; Fanning, Sean S; King, Tari A TA; Hudis, Clifford C; Chen, David D; Taran, Tetiana T; Hortobagyi, Gabriel G; Greene, Geoffrey G; Berger, Michael M; Baselga, José J; Chandarlapaty, Sarat S
Publication Date: 2013-12
Variant appearance in text: NOTCH4: G247R; rs8192586
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: NOTCH4: G247R; rs8192586