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Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans.
Daneshjou R, Gamazon ER, Burkley B, Cavallari LH, Johnson JA, Klein TE, Limdi N, Hillenmeyer S, Percha B, Karczewski KJ, Langaee T, Patel SR, Bustamante CD, Altman RB, Perera MA. Daneshjou R, et al. Among authors: karczewski kj. Blood. 2014 Oct 2;124(14):2298-305. doi: 10.1182/blood-2014-04-568436. Epub 2014 Jul 30. Blood. 2014. PMID: 25079360 Free PMC article.
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.
Babadi M, Fu JM, Lee SK, Smirnov AN, Gauthier LD, Walker M, Benjamin DI, Zhao X, Karczewski KJ, Wong I, Collins RL, Sanchis-Juan A, Brand H, Banks E, Talkowski ME. Babadi M, et al. Among authors: karczewski kj. Nat Genet. 2023 Sep;55(9):1589-1597. doi: 10.1038/s41588-023-01449-0. Epub 2023 Aug 21. Nat Genet. 2023. PMID: 37604963 Free PMC article.
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Kotrys AV, Zhou W, Chinnery PF, Karczewski KJ, Calvo SE, Neale BM, Mootha VK. Gupta R, et al. Among authors: karczewski kj. Nature. 2023 Aug;620(7975):839-848. doi: 10.1038/s41586-023-06426-5. Epub 2023 Aug 16. Nature. 2023. PMID: 37587338 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.
123 results