Germline multigene panel testing of patients with endometrial cancer.
Oncology Letters
Kral, Jan J; Jelinkova, Sandra S; Zemankova, Petra P; Vocka, Michal M; Borecka, Marianna M; Cerna, Leona L; Cerna, Marta M; Dostalek, Lukas L; Duskova, Petra P; Foretova, Lenka L; Havranek, Ondrej O; Horackova, Klara K; Hovhannisyan, Milena M; Chvojka, Stepan S; Kalousova, Marta M; Kosarova, Marcela M; Koudova, Monika M; Krutilkova, Vera V; Machackova, Eva E; Nehasil, Petr P; Novotny, Jan J; Otahalova, Barbora B; Puchmajerova, Alena A; Safarikova, Marketa M; Slama, Jiri J; Stranecky, Viktor V; Subrt, Ivan I; Tavandzis, Spiros S; Zikan, Michal M; Zima, Tomas T; Soukupova, Jana J; Kleiblova, Petra P; Kleibl, Zdenek Z; Janatova, Marketa M
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: MSH6: 2759del; Lys920fs
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10
Variant appearance in text: MSH6: 2759delA; Lys920fs
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Nature Communications
Fahed, Akl C AC; Wang, Minxian M; Homburger, Julian R JR; Patel, Aniruddh P AP; Bick, Alexander G AG; Neben, Cynthia L CL; Lai, Carmen C; Brockman, Deanna D; Philippakis, Anthony A; Ellinor, Patrick T PT; Cassa, Christopher A CA; Lebo, Matthew M; Ng, Kenney K; Lander, Eric S ES; Zhou, Alicia Y AY; Kathiresan, Sekar S; Khera, Amit V AV