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Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Bastarache L, et al. Among authors: ruderfer d. Science. 2018 Mar 16;359(6381):1233-1239. doi: 10.1126/science.aal4043. Science. 2018. PMID: 29590070 Free PMC article.
Genetic variants and functional pathways associated with resilience to Alzheimer's disease.
Dumitrescu L, Mahoney ER, Mukherjee S, Lee ML, Bush WS, Engelman CD, Lu Q, Fardo DW, Trittschuh EH, Mez J, Kaczorowski C, Hernandez Saucedo H, Widaman KF, Buckley R, Properzi M, Mormino E, Yang HS, Harrison T, Hedden T, Nho K, Andrews SJ, Tommet D, Hadad N, Sanders RE, Ruderfer DM, Gifford KA, Moore AM, Cambronero F, Zhong X, Raghavan NS, Vardarajan B; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer’s Disease Genetics Consortium (ADGC), A4 Study Team; Pericak-Vance MA, Farrer LA, Wang LS, Cruchaga C, Schellenberg G, Cox NJ, Haines JL, Keene CD, Saykin AJ, Larson EB, Sperling RA, Mayeux R, Bennett DA, Schneider JA, Crane PK, Jefferson AL, Hohman TJ. Dumitrescu L, et al. Among authors: ruderfer dm. Brain. 2020 Aug 1;143(8):2561-2575. doi: 10.1093/brain/awaa209. Brain. 2020. PMID: 32844198 Free PMC article.
Sex differences in the genetic architecture of cognitive resilience to Alzheimer's disease.
Eissman JM, Dumitrescu L, Mahoney ER, Smith AN, Mukherjee S, Lee ML, Scollard P, Choi SE, Bush WS, Engelman CD, Lu Q, Fardo DW, Trittschuh EH, Mez J, Kaczorowski CC, Hernandez Saucedo H, Widaman KF, Buckley RF, Properzi MJ, Mormino EC, Yang HS, Harrison TM, Hedden T, Nho K, Andrews SJ, Tommet D, Hadad N, Sanders RE, Ruderfer DM, Gifford KA, Zhong X, Raghavan NS, Vardarajan BN; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer’s Disease Genetics Consortium (ADGC); A4 Study Team; Pericak-Vance MA, Farrer LA, Wang LS, Cruchaga C, Schellenberg GD, Cox NJ, Haines JL, Keene CD, Saykin AJ, Larson EB, Sperling RA, Mayeux R, Cuccaro ML, Bennett DA, Schneider JA, Crane PK, Jefferson AL, Hohman TJ. Eissman JM, et al. Among authors: ruderfer dm. Brain. 2022 Jul 29;145(7):2541-2554. doi: 10.1093/brain/awac177. Brain. 2022. PMID: 35552371 Free PMC article.
PheMIME: an interactive web app and knowledge base for phenome-wide, multi-institutional multimorbidity analysis.
Zhang S, Strayer N, Vessels T, Choi K, Wang GW, Li Y, Bejan CA, Hsi RS, Bick AG, Velez Edwards DR, Savona MR, Phillips EJ, Pulley JM, Self WH, Hopkins WC, Roden DM, Smoller JW, Ruderfer DM, Xu Y. Zhang S, et al. Among authors: ruderfer dm. J Am Med Inform Assoc. 2024 Nov 1;31(11):2440-2446. doi: 10.1093/jamia/ocae182. J Am Med Inform Assoc. 2024. PMID: 39127052 Free PMC article.
190 results