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: FBN1: 493C>T; Arg165Ter
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; BalmaƱa, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Quantitative proteomics reveal lineage-specific protein profiles in iPSC-derived Marfan syndrome smooth muscle cells.
Scientific Reports
Iosef, Cristiana C; Pedroza, Albert J AJ; Cui, Jason Z JZ; Dalal, Alex R AR; Arakawa, Mamoru M; Tashima, Yasushi Y; Koyano, Tiffany K TK; Burdon, Grayson G; Churovich, Samantha M P SMP; Orrick, Joshua O JO; Pariani, Mitchel M; Fischbein, Michael P MP
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Molecular Genetics & Genomic Medicine
Brunelli, Luca L; Jenkins, Sabrina M SM; Gudgeon, James M JM; Bleyl, Steven B SB; Miller, Christine E CE; Tvrdik, Tatiana T; Dames, Shale A SA; Ostrander, Betsy B; Daboub, Josue A F JAF; Zielinski, Brandon A BA; Zinkhan, Erin K EK; Underhill, Hunter R HR; Wilson, Theodore T; Bonkowsky, Joshua L JL; Yost, Christian C CC; Botto, Lorenzo D LD; Jenkins, Justin J; Pysher, Theodore J TJ; Bayrak-Toydemir, Pinar P; Mao, Rong R
Publication Date: 2019-07
Variant appearance in text: FBN1: 493C>T; Arg165Cys