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Page 1
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.
Association of ST2 polymorphisms with atopy, asthma, and leukemia.
Bloodworth MH, Rusznak M, Bastarache L, Wang J, Denny JC, Peebles RS Jr. Bloodworth MH, et al. Among authors: bastarache l. J Allergy Clin Immunol. 2018 Sep;142(3):991-993.e3. doi: 10.1016/j.jaci.2018.03.020. Epub 2018 May 19. J Allergy Clin Immunol. 2018. PMID: 29787780 Free PMC article. No abstract available.
Association of estrogen receptor α polymorphism rs1999805 with asthma.
Bloodworth MH, Rusznak M, Bastarache L, Wang J, Newcomb DC. Bloodworth MH, et al. Among authors: bastarache l. Ann Allergy Asthma Immunol. 2019 Feb;122(2):208-210. doi: 10.1016/j.anai.2018.11.005. Epub 2018 Nov 16. Ann Allergy Asthma Immunol. 2019. PMID: 30448624 Free PMC article. No abstract available.
Multi-omic analysis elucidates the genetic basis of hydrocephalus.
Hale AT, Bastarache L, Morales DM, Wellons JC 3rd, Limbrick DD Jr, Gamazon ER. Hale AT, et al. Among authors: bastarache l. Cell Rep. 2021 May 4;35(5):109085. doi: 10.1016/j.celrep.2021.109085. Cell Rep. 2021. PMID: 33951428 Free PMC article.
Transcription factor ETV1 is essential for rapid conduction in the heart.
Shekhar A, Lin X, Liu FY, Zhang J, Mo H, Bastarache L, Denny JC, Cox NJ, Delmar M, Roden DM, Fishman GI, Park DS. Shekhar A, et al. Among authors: bastarache l. J Clin Invest. 2016 Dec 1;126(12):4444-4459. doi: 10.1172/JCI87968. Epub 2016 Oct 24. J Clin Invest. 2016. PMID: 27775552 Free PMC article.
TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits.
Diogo D, Bastarache L, Liao KP, Graham RR, Fulton RS, Greenberg JD, Eyre S, Bowes J, Cui J, Lee A, Pappas DA, Kremer JM, Barton A, Coenen MJ, Franke B, Kiemeney LA, Mariette X, Richard-Miceli C, Canhão H, Fonseca JE, de Vries N, Tak PP, Crusius JB, Nurmohamed MT, Kurreeman F, Mikuls TR, Okada Y, Stahl EA, Larson DE, Deluca TL, O'Laughlin M, Fronick CC, Fulton LL, Kosoy R, Ransom M, Bhangale TR, Ortmann W, Cagan A, Gainer V, Karlson EW, Kohane I, Murphy SN, Martin J, Zhernakova A, Klareskog L, Padyukov L, Worthington J, Mardis ER, Seldin MF, Gregersen PK, Behrens T, Raychaudhuri S, Denny JC, Plenge RM. Diogo D, et al. Among authors: bastarache l. PLoS One. 2015 Apr 7;10(4):e0122271. doi: 10.1371/journal.pone.0122271. eCollection 2015. PLoS One. 2015. PMID: 25849893 Free PMC article.
Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data.
Mosley JD, van Driest SL, Wells QS, Shaffer CM, Edwards TL, Bastarache L, McCarty CA, Thompson W, Chute CG, Jarvik GP, Crosslin DR, Larson EB, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Denny JC, Roden DM. Mosley JD, et al. Among authors: bastarache l. Circ Cardiovasc Genet. 2016 Dec;9(6):521-530. doi: 10.1161/CIRCGENETICS.116.001530. Epub 2016 Oct 25. Circ Cardiovasc Genet. 2016. PMID: 27780847 Free PMC article.
Joint mouse-human phenome-wide association to test gene function and disease risk.
Wang X, Pandey AK, Mulligan MK, Williams EG, Mozhui K, Li Z, Jovaisaite V, Quarles LD, Xiao Z, Huang J, Capra JA, Chen Z, Taylor WL, Bastarache L, Niu X, Pollard KS, Ciobanu DC, Reznik AO, Tishkov AV, Zhulin IB, Peng J, Nelson SF, Denny JC, Auwerx J, Lu L, Williams RW. Wang X, et al. Among authors: bastarache l. Nat Commun. 2016 Feb 2;7:10464. doi: 10.1038/ncomms10464. Nat Commun. 2016. PMID: 26833085 Free PMC article.
145 results