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; ,
Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.
Cancer Medicine
Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS
Reference exome data for a Northern Brazilian population.
Scientific Data
Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB
GENomE wide analysis of sotalol-induced IKr inhibition during ventricular REPOLarization, "GENEREPOL study": Lack of common variants with large effect sizes.
Plos One
Salem, Joe-Elie JE; Germain, Marine M; Hulot, Jean-Sébastien JS; Voiriot, Pascal P; Lebourgeois, Bruno B; Waldura, Jean J; Tregouet, David-Alexandre DA; Charbit, Beny B; Funck-Brentano, Christian C
Germline Genetic Variants and Lung Cancer Survival in African Americans.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Jones, Carissa C CC; Bush, William S WS; Crawford, Dana C DC; Wenzlaff, Angela S AS; Schwartz, Ann G AG; Wiencke, John K JK; Wrensch, Margaret R MR; Blot, William J WJ; Chanock, Stephen J SJ; Grogan, Eric L EL; Aldrich, Melinda C MC
Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.
Human Molecular Genetics
Evans, Daniel S DS; Avery, Christy L CL; Nalls, Mike A MA; Li, Guo G; Barnard, John J; Smith, Erin N EN; Tanaka, Toshiko T; Butler, Anne M AM; Buxbaum, Sarah G SG; Alonso, Alvaro A; Arking, Dan E DE; Berenson, Gerald S GS; Bis, Joshua C JC; Buyske, Steven S; Carty, Cara L CL; Chen, Wei W; Chung, Mina K MK; Cummings, Steven R SR; Deo, Rajat R; Eaton, Charles B CB; Fox, Ervin R ER; Heckbert, Susan R SR; Heiss, Gerardo G; Hindorff, Lucia A LA; Hsueh, Wen-Chi WC; Isaacs, Aaron A; Jamshidi, Yalda Y; Kerr, Kathleen F KF; Liu, Felix F; Liu, Yongmei Y; Lohman, Kurt K KK; Magnani, Jared W JW; Maher, Joseph F JF; Mehra, Reena R; Meng, Yan A YA; Musani, Solomon K SK; Newton-Cheh, Christopher C; North, Kari E KE; Psaty, Bruce M BM; Redline, Susan S; Rotter, Jerome I JI; Schnabel, Renate B RB; Schork, Nicholas J NJ; Shohet, Ralph V RV; Singleton, Andrew B AB; Smith, Jonathan D JD; Soliman, Elsayed Z EZ; Srinivasan, Sathanur R SR; Taylor, Herman A HA; Van Wagoner, David R DR; Wilson, James G JG; Young, Taylor T; Zhang, Zhu-Ming ZM; Zonderman, Alan B AB; Evans, Michele K MK; Ferrucci, Luigi L; Murray, Sarah S SS; Tranah, Gregory J GJ; Whitsel, Eric A EA; Reiner, Alex P AP; , ; Sotoodehnia, Nona N
Replication of SCN5A Associations with Electrocardio-graphic Traits in African Americans from Clinical and Epidemiologic Studies.
Evolutionary Computation, Machine Learning And Data Mining In Bioinformatics. Evobio (Conference)
Jeff, Janina M JM; Brown-Gentry, Kristin K; Goodloe, Robert R; Ritchie, Marylyn D MD; Denny, Joshua C JC; Kho, Abel N AN; Armstrong, Loren L LL; McClellan, Bob B; Mayo, Ping P; Allen, Melissa M; Jin, Hailing H; Gillani, Niloufar B NB; Schnetz-Boutaud, Nathalie N; Dilks, Holli H HH; Basford, Melissa A MA; Pacheco, Jennifer A JA; Jarvik, Gail P GP; Chisholm, Rex L RL; Roden, Dan M DM; Hayes, M Geoffrey MG; Crawford, Dana C DC
A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.
Plos One
Hennessey, Jessica A JA; Boczek, Nicole J NJ; Jiang, Yong-Hui YH; Miller, Joelle D JD; Patrick, William W; Pfeiffer, Ryan R; Sutphin, Brittan S BS; Tester, David J DJ; Barajas-Martinez, Hector H; Ackerman, Michael J MJ; Antzelevitch, Charles C; Kanter, Ronald R; Pitt, Geoffrey S GS
Screening for 392 polymorphisms in 141 pharmacogenes.
Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Gene-environment interaction between SCN5A-1103Y and hypokalemia influences QT interval prolongation in African Americans: the Jackson Heart Study.
American Heart Journal
Akylbekova, Ermeg L EL; Payne, John P JP; Newton-Cheh, Christopher C; May, Warren L WL; Fox, Ervin R ER; Wilson, James G JG; Sarpong, Daniel F DF; Taylor, Herman A HA; Maher, Joseph F JF
PATH-SCAN: a reporting tool for identifying clinically actionable variants.
Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Daneshjou, Roxana R; Zappala, Zachary Z; Kukurba, Kim K; Boyle, Sean M SM; Ormond, Kelly E KE; Klein, Teri E TE; Snyder, Michael M; Bustamante, Carlos D CD; Altman, Russ B RB; Montgomery, Stephen B SB
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
Annals Of Human Genetics
Jeff, Janina M JM; Ritchie, Marylyn D MD; Denny, Joshua C JC; Kho, Abel N AN; Ramirez, Andrea H AH; Crosslin, David D; Armstrong, Loren L; Basford, Melissa A MA; Wolf, Wendy A WA; Pacheco, Jennifer A JA; Chisholm, Rex L RL; Roden, Dan M DM; Hayes, M Geoffrey MG; Crawford, Dana C DC
The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction.
Circulation. Cardiovascular Genetics
Sun, Albert Y AY; Koontz, Jason I JI; Shah, Svati H SH; Piccini, Jonathan P JP; Nilsson, Kent R KR; Craig, Damian D; Haynes, Carol C; Gregory, Simon G SG; Hranitzky, Patrick M PM; Pitt, Geoffrey S GS
Genome-wide association studies of the PR interval in African Americans.
Plos Genetics
Smith, J Gustav JG; Magnani, Jared W JW; Palmer, Cameron C; Meng, Yan A YA; Soliman, Elsayed Z EZ; Musani, Solomon K SK; Kerr, Kathleen F KF; Schnabel, Renate B RB; Lubitz, Steven A SA; Sotoodehnia, Nona N; Redline, Susan S; Pfeufer, Arne A; Müller, Martina M; Evans, Daniel S DS; Nalls, Michael A MA; Liu, Yongmei Y; Newman, Anne B AB; Zonderman, Alan B AB; Evans, Michele K MK; Deo, Rajat R; Ellinor, Patrick T PT; Paltoo, Dina N DN; Newton-Cheh, Christopher C; Benjamin, Emelia J EJ; Mehra, Reena R; Alonso, Alvaro A; Heckbert, Susan R SR; Fox, Ervin R ER; ,