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Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans.
Daneshjou R, Cavallari LH, Weeke PE, Karczewski KJ, Drozda K, Perera MA, Johnson JA, Klein TE, Bustamante CD, Roden DM, Shaffer C, Denny JC, Zehnder JL, Altman RB. Daneshjou R, et al. Among authors: karczewski kj. Mol Genet Genomic Med. 2016 Jun 21;4(5):513-20. doi: 10.1002/mgg3.226. eCollection 2016 Sep. Mol Genet Genomic Med. 2016. PMID: 27652279 Free PMC article.
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.
Rämö JT, Kiiskinen T, Seist R, Krebs K, Kanai M, Karjalainen J, Kurki M, Hämäläinen E, Häppölä P, Havulinna AS, Hautakangas H; FinnGen; Mägi R, Palta P, Esko T, Metspalu A, Pirinen M, Karczewski KJ, Ripatti S, Milani L, Stankovic KM, Mäkitie A, Daly MJ, Palotie A. Rämö JT, et al. Among authors: karczewski kj. Nat Commun. 2023 Jan 18;14(1):157. doi: 10.1038/s41467-022-32936-3. Nat Commun. 2023. PMID: 36653343 Free PMC article.
Mono- and biallelic variant effects on disease at biobank scale.
Heyne HO, Karjalainen J, Karczewski KJ, Lemmelä SM, Zhou W; FinnGen; Havulinna AS, Kurki M, Rehm HL, Palotie A, Daly MJ. Heyne HO, et al. Among authors: karczewski kj. Nature. 2023 Jan;613(7944):519-525. doi: 10.1038/s41586-022-05420-7. Epub 2023 Jan 18. Nature. 2023. PMID: 36653560 Free PMC article.
Bioinformatics challenges for personalized medicine.
Fernald GH, Capriotti E, Daneshjou R, Karczewski KJ, Altman RB. Fernald GH, et al. Among authors: karczewski kj. Bioinformatics. 2011 Jul 1;27(13):1741-8. doi: 10.1093/bioinformatics/btr295. Epub 2011 May 19. Bioinformatics. 2011. PMID: 21596790 Free PMC article.
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.
Dewey FE, Chen R, Cordero SP, Ormond KE, Caleshu C, Karczewski KJ, Whirl-Carrillo M, Wheeler MT, Dudley JT, Byrnes JK, Cornejo OE, Knowles JW, Woon M, Sangkuhl K, Gong L, Thorn CF, Hebert JM, Capriotti E, David SP, Pavlovic A, West A, Thakuria JV, Ball MP, Zaranek AW, Rehm HL, Church GM, West JS, Bustamante CD, Snyder M, Altman RB, Klein TE, Butte AJ, Ashley EA. Dewey FE, et al. Among authors: karczewski kj. PLoS Genet. 2011 Sep;7(9):e1002280. doi: 10.1371/journal.pgen.1002280. Epub 2011 Sep 15. PLoS Genet. 2011. PMID: 21935354 Free PMC article.
Personal omics profiling reveals dynamic molecular and medical phenotypes.
Chen R, Mias GI, Li-Pook-Than J, Jiang L, Lam HY, Chen R, Miriami E, Karczewski KJ, Hariharan M, Dewey FE, Cheng Y, Clark MJ, Im H, Habegger L, Balasubramanian S, O'Huallachain M, Dudley JT, Hillenmeyer S, Haraksingh R, Sharon D, Euskirchen G, Lacroute P, Bettinger K, Boyle AP, Kasowski M, Grubert F, Seki S, Garcia M, Whirl-Carrillo M, Gallardo M, Blasco MA, Greenberg PL, Snyder P, Klein TE, Altman RB, Butte AJ, Ashley EA, Gerstein M, Nadeau KC, Tang H, Snyder M. Chen R, et al. Among authors: karczewski kj. Cell. 2012 Mar 16;148(6):1293-307. doi: 10.1016/j.cell.2012.02.009. Cell. 2012. PMID: 22424236 Free PMC article.
Chapter 7: Pharmacogenomics.
Karczewski KJ, Daneshjou R, Altman RB. Karczewski KJ, et al. PLoS Comput Biol. 2012;8(12):e1002817. doi: 10.1371/journal.pcbi.1002817. Epub 2012 Dec 27. PLoS Comput Biol. 2012. PMID: 23300409 Free PMC article.
127 results