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Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.
Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R, Mosley JD, Field JR, Pulley JM, Ramirez AH, Bowton E, Basford MA, Carrell DS, Peissig PL, Kho AN, Pacheco JA, Rasmussen LV, Crosslin DR, Crane PK, Pathak J, Bielinski SJ, Pendergrass SA, Xu H, Hindorff LA, Li R, Manolio TA, Chute CG, Chisholm RL, Larson EB, Jarvik GP, Brilliant MH, McCarty CA, Kullo IJ, Haines JL, Crawford DC, Masys DR, Roden DM. Denny JC, et al. Among authors: bastarache l. Nat Biotechnol. 2013 Dec;31(12):1102-10. doi: 10.1038/nbt.2749. Nat Biotechnol. 2013. PMID: 24270849 Free PMC article.
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Tinker RJ, Bastarache L, Ezell K, Kobren SN, Esteves C, Rosenfeld JA, Macnamara EF, Hamid R, Cogan JD, Rinker D, Mukharjee S, Glass I, Dipple K, Phillips JA 3rd; Undiagnosed Diseases Network. Tinker RJ, et al. Among authors: bastarache l. Am J Med Genet A. 2023 Oct;191(10):2482-2492. doi: 10.1002/ajmg.a.63309. Epub 2023 May 29. Am J Med Genet A. 2023. PMID: 37246601
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Ganapathi M, et al. Among authors: bastarache l. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27. Eur J Hum Genet. 2023. PMID: 37500725
Human Immunodeficiency Virus Status, Tenofovir Exposure, and the Risk of Poor Coronavirus Disease 19 Outcomes: Real-World Analysis From 6 United States Cohorts Before Vaccine Rollout.
Lea AN, Leyden WA, Sofrygin O, Marafino BJ, Skarbinski J, Napravnik S, Agil D, Augenbraun M, Benning L, Horberg MA, Jefferson C, Marconi VC, Park LS, Gordon KS, Bastarache L, Gangireddy S, Althoff KN, Coburn SB, Gebo KA, Lang R, Williams C, Silverberg MJ. Lea AN, et al. Among authors: bastarache l. Clin Infect Dis. 2023 May 24;76(10):1727-1734. doi: 10.1093/cid/ciad084. Clin Infect Dis. 2023. PMID: 36861341 Free PMC article.
145 results