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A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation.
Gorman BR, Francis M, Nealon CL, Halladay CW, Duro N, Markianos K, Genovese G, Hysi PG, Choquet H, Afshari NA, Li YJ; VA Million Veteran Program; Gaziano JM, Hung AM, Wu WC, Greenberg PB, Pyarajan S, Lass JH, Peachey NS, Iyengar SK. Gorman BR, et al. Among authors: markianos k. Commun Biol. 2024 Apr 6;7(1):418. doi: 10.1038/s42003-024-06046-3. Commun Biol. 2024. PMID: 38582945 Free PMC article.
Multi-ancestry GWAS of Fuchs corneal dystrophy highlights roles of laminins, collagen, and endothelial cell regulation.
Peachey N, Gorman B, Francis M, Nealon C, Halladay C, Duro N, Markianos K, Genovese G, Hysi P, Choquet H, Afshari N, Li YJ, Gaziano JM, Hung A, Wu WC, Greenberg P, Pyarajan S, Lass J, Iyengar S. Peachey N, et al. Among authors: markianos k. Res Sq [Preprint]. 2023 May 3:rs.3.rs-2762003. doi: 10.21203/rs.3.rs-2762003/v1. Res Sq. 2023. PMID: 37205546 Free PMC article. Updated. Preprint.
Pharmacogenetic allele variant frequencies: An analysis of the VA's Million Veteran Program (MVP) as a representation of the diversity in US population.
Markianos K, Dong F, Gorman B, Shi Y, Dochtermann D, Saxena U, Devineni P, Moser J, Muralidhar S, Ramoni R, Tsao P, Pyarajan S, Przygodzki R; Million Veteran Program. Markianos K, et al. PLoS One. 2023 Feb 24;18(2):e0274339. doi: 10.1371/journal.pone.0274339. eCollection 2023. PLoS One. 2023. PMID: 36827430 Free PMC article.
Identifying autism loci and genes by tracing recent shared ancestry.
Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA. Morrow EM, et al. Among authors: markianos k. Science. 2008 Jul 11;321(5886):218-23. doi: 10.1126/science.1157657. Science. 2008. PMID: 18621663 Free PMC article.
Using whole-exome sequencing to identify inherited causes of autism.
Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA. Yu TW, et al. Among authors: markianos k. Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002. Neuron. 2013. PMID: 23352163 Free PMC article.
Comparative RNA editing in autistic and neurotypical cerebella.
Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM. Eran A, et al. Among authors: markianos k. Mol Psychiatry. 2013 Sep;18(9):1041-8. doi: 10.1038/mp.2012.118. Epub 2012 Aug 7. Mol Psychiatry. 2013. PMID: 22869036 Free PMC article.
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
Schmitz-Abe K, Sanchez-Schmitz G, Doan RN, Hill RS, Chahrour MH, Mehta BK, Servattalab S, Ataman B, Lam AN, Morrow EM, Greenberg ME, Yu TW, Walsh CA, Markianos K. Schmitz-Abe K, et al. Among authors: markianos k. Sci Rep. 2020 Aug 20;10(1):14045. doi: 10.1038/s41598-020-70656-0. Sci Rep. 2020. PMID: 32820185 Free PMC article.
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD. Campagna DR, et al. Among authors: markianos k. Am J Hematol. 2014 Mar;89(3):315-9. doi: 10.1002/ajh.23616. Epub 2013 Nov 20. Am J Hematol. 2014. PMID: 24166784 Free PMC article.
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. Finberg KE, et al. Among authors: markianos k. Nat Genet. 2008 May;40(5):569-71. doi: 10.1038/ng.130. Epub 2008 Apr 13. Nat Genet. 2008. PMID: 18408718 Free PMC article.
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