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: 5692C>T; Arg1898Ter
Comparison of Homologous Recombination Repair Gene Next-Generation Sequencing Analysis in Patients With Metastatic Castration-Resistant Prostate Cancer Between Local and Central Laboratories in Korea.
Annals Of Laboratory Medicine
Kim, Yoonjung Y; Park, Inho I; Kim, Boyeon B; Choi, Yu Jeong YJ; Oh, Seoung Chul SC; Lee, Kyung-A KA
Publication Date: 2023-01-01
Variant appearance in text: ATM: 5692C>T; Arg1898Ter
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.
Journal Of Translational Medicine
Shui, Lin L; Li, Xiaofen X; Peng, Yang Y; Tian, Jiangfang J; Li, Shuangshuang S; He, Du D; Li, Ang A; Tian, Bole B; Li, Mao M; Gao, Heli H; An, Ning N; Yi, Cheng C; Cao, Dan D
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.
Haematologica
Tausch, Eugen E; Beck, Philipp P; Schlenk, Richard F RF; Jebaraj, Billy J BJ; Dolnik, Anna A; Yosifov, Deyan Y DY; Hillmen, Peter P; Offner, Fritz F; Janssens, Ann A; Babu, Govind K GK; Grosicki, Sebastian S; Mayer, Jiri J; Panagiotidis, Panagiotis P; McKeown, Astrid A; Gupta, Ira V IV; Skorupa, Alexandra A; Pallaud, Celine C; Bullinger, Lars L; Mertens, Daniel D; Döhner, Hartmut H; Stilgenbauer, Stephan S
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Ebiomedicine
Kohli, Manish M; Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Montesinos, Carlos C; Wong, Calven C; Du, Pan P; Jia, Shidong S; Yadav, Siddhartha S; Horvath, Lisa G LG; Mahon, Kate L KL; Kwan, Edmond M EM; Fettke, Heidi H; Yu, Jianjun J; Azad, Arun A AA
Publication Date: 2020-04
Variant appearance in text: ATM: Arg1898Ter; rs775036118
Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.
Nature Communications
Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R
Genomic analysis of exceptional responders to radiotherapy reveals somatic mutations in ATM.
Oncotarget
Ma, Jennifer J; Setton, Jeremy J; Morris, Luc L; Albornoz, Pedro Blecua Carrillo PB; Barker, Christopher C; Lok, Benjamin H BH; Sherman, Eric E; Katabi, Nora N; Beal, Kathryn K; Ganly, Ian I; Powell, Simon N SN; Lee, Nancy N; Chan, Timothy A TA; Riaz, Nadeem N
Tumor genome analysis includes germline genome: are we ready for surprises?
International Journal Of Cancer
Catenacci, Daniel V T DV; Amico, Andrea L AL; Nielsen, Sarah M SM; Geynisman, Daniel M DM; Rambo, Brittany B; Carey, George B GB; Gulden, Cassandra C; Fackenthal, Jim J; Marsh, Robert D RD; Kindler, Hedy L HL; Olopade, Olufunmilayo I OI
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.
Molecular Genetics & Genomic Medicine
Nakamura, Kotoka K; Fike, Francesca F; Haghayegh, Sara S; Saunders-Pullman, Rachel R; Dawson, Angelika J AJ; Dörk, Thilo T; Gatti, Richard A RA
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Disease Markers
Magliozzi, Monia M; Piane, Maria M; Torrente, Isabella I; Sinibaldi, Lorenzo L; Rizzo, Giovanni G; Savio, Camilla C; Lulli, Patrizia P; De Luca, Alessandro A; Dallapiccola, Bruno B; Chessa, Luciana L