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Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43, 870 individuals from the eMERGE network., , , , , , , , , и 14 other автор(ы). PSB, стр. 272-283. (2019)SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants., , , , и . Briefings Bioinform., (января 2023)Deep learning for rare disease: A scoping review., , , , , , , и . J. Biomed. Informatics, (2022)Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers, , , , , , , , , и 176 other автор(ы). Human mutation, 33 (4): 690–702 (2012)Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk, , , , , , , , , и 252 other автор(ы). PLoS genetics, 9 (3): e1003212 (2013)Development of a Genomic Data Flow Framework: Results of a Survey Administered to NIH-NHGRI IGNITE and eMERGE Consortia Participants., , , , , , , , , и 2 other автор(ы). AMIA, AMIA, (2019)User engagement with web-based genomics education videos and implications for designing scalable patient education materials., , , , , , и . AMIA, AMIA, (2019)CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record., , , , , , , , , и 13 other автор(ы). J. Am. Medical Informatics Assoc., 22 (6): 1231-1242 (2015)Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study., , , , , , , , , и 7 other автор(ы). J. Am. Medical Informatics Assoc., 31 (2): 306-316 (января 2024)Predicting functional effect of missense variants using graph attention neural networks., , , , и . Nat. Mac. Intell., 4 (11): 1017-1028 (ноября 2022)