A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.
Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: GRN: A276V; rs202178902
Serum progranulin is not associated with rs5848 polymorphism in Korean patients with neurodegenerative diseases.
Plos One
Jung, Na-Yeon NY; Kim, Hyang-Sook HS; Kim, Eun Soo ES; Jeon, Sumin S; Lee, Myung Jun MJ; Pak, Kyoungjune K; Lee, Jae-Hyeok JH; Lee, Young Min YM; Lee, Kangyoon K; Shin, Jin-Hong JH; Ko, Jun Kyeung JK; Lee, Jae Meen JM; Yoon, Jin A JA; Hwang, Chungsu C; Choi, Kyung-Un KU; Huh, Gi Yeong GY; Kim, Young-Eun YE; Kim, Eun-Joo EJ
Serum progranulin is not associated with rs5848 polymorphism in Korean patients with neurodegenerative diseases.
Plos One
Jung, Na-Yeon NY; Kim, Hyang-Sook HS; Kim, Eun Soo ES; Jeon, Sumin S; Lee, Myung Jun MJ; Pak, Kyoungjune K; Lee, Jae-Hyeok JH; Lee, Young Min YM; Lee, Kangyoon K; Shin, Jin-Hong JH; Ko, Jun Kyeung JK; Lee, Jae Meen JM; Yoon, Jin A JA; Hwang, Chungsu C; Choi, Kyung-Un KU; Huh, Gi Yeong GY; Kim, Young-Eun YE; Kim, Eun-Joo EJ
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.
Acta Neuropathologica Communications
Orme, Tatiana T; Hernandez, Dena D; Ross, Owen A OA; Kun-Rodrigues, Celia C; Darwent, Lee L; Shepherd, Claire E CE; Parkkinen, Laura L; Ansorge, Olaf O; Clark, Lorraine L; Honig, Lawrence S LS; Marder, Karen K; Lemstra, Afina A; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Londos, Elisabet E; Zetterberg, Henrik H; Morgan, Kevin K; Troakes, Claire C; Al-Sarraj, Safa S; Lashley, Tammaryn T; Holton, Janice J; Compta, Yaroslau Y; Van Deerlin, Vivianna V; Trojanowski, John Q JQ; Serrano, Geidy E GE; Beach, Thomas G TG; Lesage, Suzanne S; Galasko, Douglas D; Masliah, Eliezer E; Santana, Isabel I; Pastor, Pau P; Tienari, Pentti J PJ; Myllykangas, Liisa L; Oinas, Minna M; Revesz, Tamas T; Lees, Andrew A; Boeve, Brad F BF; Petersen, Ronald C RC; Ferman, Tanis J TJ; Escott-Price, Valentina V; Graff-Radford, Neill N; Cairns, Nigel J NJ; Morris, John C JC; Pickering-Brown, Stuart S; Mann, David D; Halliday, Glenda G; Stone, David J DJ; Dickson, Dennis W DW; Hardy, John J; Singleton, Andrew A; Guerreiro, Rita R; Bras, Jose J
Publication Date: 2020-01-29
Variant appearance in text: GRN: 827C>T; Ala276Val
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Archives Of Neurology
Yu, Chang-En CE; Bird, Thomas D TD; Bekris, Lynn M LM; Montine, Thomas J TJ; Leverenz, James B JB; Steinbart, Ellen E; Galloway, Nichole M NM; Feldman, Howard H; Woltjer, Randall R; Miller, Carol A CA; Wood, Elisabeth McCarty EM; Grossman, Murray M; McCluskey, Leo L; Clark, Christopher M CM; Neumann, Manuela M; Danek, Adrian A; Galasko, Douglas R DR; Arnold, Steven E SE; Chen-Plotkin, Alice A; Karydas, Anna A; Miller, Bruce L BL; Trojanowski, John Q JQ; Lee, Virginia M-Y VM; Schellenberg, Gerard D GD; Van Deerlin, Vivianna M VM