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: PC: A128T; rs1338017187
A highly potent and safe pyrrolopyridine-based allosteric HIV-1 integrase inhibitor targeting host LEDGF/p75-integrase interaction site.
Plos Pathogens
Maehigashi, Tatsuya T; Ahn, Seohyun S; Kim, Uk-Il UI; Lindenberger, Jared J; Oo, Adrian A; Koneru, Pratibha C PC; Mahboubi, Bijan B; Engelman, Alan N AN; Kvaratskhelia, Mamuka M; Kim, Kyungjin K; Kim, Baek B
JC Polyomavirus Abundance and Distribution in Progressive Multifocal Leukoencephalopathy (PML) Brain Tissue Implicates Myelin Sheath in Intracerebral Dissemination of Infection.
Plos One
Wharton, Keith A KA; Quigley, Catherine C; Themeles, Marian M; Dunstan, Robert W RW; Doyle, Kathryn K; Cahir-McFarland, Ellen E; Wei, Jing J; Buko, Alex A; Reid, Carl E CE; Sun, Chao C; Carmillo, Paul P; Sur, Gargi G; Carulli, John P JP; Mansfield, Keith G KG; Westmoreland, Susan V SV; Staugaitis, Susan M SM; Fox, Robert J RJ; Meier, Werner W; Goelz, Susan E SE
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
Journal Of Medical Genetics
Goldstein, Alisa M AM; Chan, May M; Harland, Mark M; Hayward, Nicholas K NK; Demenais, Florence F; Bishop, D Timothy DT; Azizi, Esther E; Bergman, Wilma W; Bianchi-Scarra, Giovanna G; Bruno, William W; Calista, Donato D; Albright, Lisa A Cannon LA; Chaudru, Valerie V; Chompret, Agnes A; Cuellar, Francisco F; Elder, David E DE; Ghiorzo, Paola P; Gillanders, Elizabeth M EM; Gruis, Nelleke A NA; Hansson, Johan J; Hogg, David D; Holland, Elizabeth A EA; Kanetsky, Peter A PA; Kefford, Richard F RF; Landi, Maria Teresa MT; Lang, Julie J; Leachman, Sancy A SA; MacKie, Rona M RM; Magnusson, Veronica V; Mann, Graham J GJ; Bishop, Julia Newton JN; Palmer, Jane M JM; Puig, Susana S; Puig-Butille, Joan A JA; Stark, Mitchell M; Tsao, Hensin H; Tucker, Margaret A MA; Whitaker, Linda L; Yakobson, Emanuel E; , ; ,