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Genomic Disorders in CKD across the Lifespan.
Verbitsky M, Krishnamurthy S, Krithivasan P, Hughes D, Khan A, Marasà M, Vena N, Khosla P, Zhang J, Lim TY, Glessner JT, Weng C, Shang N, Shen Y, Hripcsak G, Hakonarson H, Ionita-Laza I, Levy B, Kenny EE, Loos RJF, Kiryluk K, Sanna-Cherchi S, Crosslin DR, Furth S, Warady BA, Igo RP Jr, Iyengar SK, Wong CS, Parsa A, Feldman HI, Gharavi AG. Verbitsky M, et al. J Am Soc Nephrol. 2023 Apr 1;34(4):607-618. doi: 10.1681/ASN.2022060725. Epub 2022 Oct 27. J Am Soc Nephrol. 2023. PMID: 36302597 Free PMC article.
Estimating the number of unseen variants in the human genome.
Ionita-Laza I, Lange C, M Laird N. Ionita-Laza I, et al. Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):5008-13. doi: 10.1073/pnas.0807815106. Epub 2009 Mar 10. Proc Natl Acad Sci U S A. 2009. PMID: 19276111 Free PMC article.
Small sample properties of rare variant analysis methods.
Swartz MD, Kim T, Niu J, Yu RK, Shete S, Ionita-Laza I. Swartz MD, et al. BMC Proc. 2014 Jun 17;8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S13. doi: 10.1186/1753-6561-8-S1-S13. eCollection 2014. BMC Proc. 2014. PMID: 25519366 Free PMC article.
Linkage disequilibrium mapping of the chromosome 6q21-22.31 bipolar I disorder susceptibility locus.
Fan J, Ionita-Laza I, McQueen MB, Devlin B, Purcell S, Faraone SV, Allen MH, Bowden CL, Calabrese JR, Fossey MD, Friedman ES, Gyulai L, Hauser P, Ketter TB, Marangell LB, Miklowitz DJ, Nierenberg AA, Patel JK, Sachs GS, Thase ME, Molay FB, Escamilla MA, Nimgaonkar VL, Sklar P, Laird NM, Smoller JW. Fan J, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):29-37. doi: 10.1002/ajmg.b.30942. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19308960 Free PMC article.
GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway.
Kiryluk K, Li Y, Moldoveanu Z, Suzuki H, Reily C, Hou P, Xie J, Mladkova N, Prakash S, Fischman C, Shapiro S, LeDesma RA, Bradbury D, Ionita-Laza I, Eitner F, Rauen T, Maillard N, Berthoux F, Floege J, Chen N, Zhang H, Scolari F, Wyatt RJ, Julian BA, Gharavi AG, Novak J. Kiryluk K, et al. PLoS Genet. 2017 Feb 10;13(2):e1006609. doi: 10.1371/journal.pgen.1006609. eCollection 2017 Feb. PLoS Genet. 2017. PMID: 28187132 Free PMC article.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG. Sanna-Cherchi S, et al. Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Am J Hum Genet. 2017. PMID: 29100090 Free PMC article.
88 results