Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: ATM: 3245_3247delinsTGAT; His1082fs; rs587776549
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: ATM: 3245_3247delinsTGAT; His1082fs
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Molecular Genetics & Genomic Medicine
Akler, Gidon G; Birch, Ashley H AH; Schreiber-Agus, Nicole N; Cai, Xiaoqiang X; Cai, Guiqing G; Shi, Lisong L; Yu, Chunli C; Larmore, Anastasia M AM; Mendiratta-Vij, Geetu G; Elkhoury, Lama L; Dillon, Mitchell W MW; Zhu, Jun J; Mclellan, Andrew S AS; Suer, Funda E FE; Webb, Bryn D BD; Schadt, Eric E EE; Kornreich, Ruth R; Edelmann, Lisa L
Publication Date: 2020-02
Variant appearance in text: ATM: 3245_3247delATCinsTGAT; H1082fs
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
Scientific Reports
Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Holth, Arild A; Capella, Gabriel G; Davidson, Ben B; Evans, D Gareth DG; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2019-12-06
Variant appearance in text: ATM: 3245_3247delinsTGAT; His1082Leufs
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
Plos One
Oliver, Gavin R GR; Tang, Xiaojia X; Schultz-Rogers, Laura E LE; Vidal-Folch, Noemi N; Jenkinson, W Garrett WG; Schwab, Tanya L TL; Gaonkar, Krutika K; Cousin, Margot A MA; Nair, Asha A; Basu, Shubham S; Chanana, Pritha P; Oglesbee, Devin D; Klee, Eric W EW
Publication Date: 2019
Variant appearance in text: ATM: 3245_3247delinsTGAT; H1082Lfs*14
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Chaffee, Kari G KG; Oberg, Ann L AL; McWilliams, Robert R RR; Majithia, Neil N; Allen, Brian A BA; Kidd, John J; Singh, Nanda N; Hartman, Anne-Renee AR; Wenstrup, Richard J RJ; Petersen, Gloria M GM
Publication Date: 2018-01
Variant appearance in text: ATM: 3245_3247delinsTGAT; His1082Leufs*14
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.
Bmj Open
Hart, Steven N SN; Ellingson, Marissa S MS; Schahl, Kim K; Vedell, Peter T PT; Carlson, Rachel E RE; Sinnwell, Jason P JP; Barman, Poulami P; Sicotte, Hugues H; Eckel-Passow, Jeanette E JE; Wang, Liguo L; Kalari, Krishna R KR; Qin, Rui R; Kruisselbrink, Teresa M TM; Jimenez, Rafael E RE; Bryce, Alan H AH; Tan, Winston W; Weinshilboum, Richard R; Wang, Liewei L; Kohli, Manish M
Publication Date: 2016-04-15
Variant appearance in text: ATM: 3245_3247delinsTGAT; His1082LeufsX14