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Page 1
Integrative omics for health and disease.
Karczewski KJ, Snyder MP. Karczewski KJ, et al. Nat Rev Genet. 2018 May;19(5):299-310. doi: 10.1038/nrg.2018.4. Epub 2018 Feb 26. Nat Rev Genet. 2018. PMID: 29479082 Free PMC article. Review.
Variation in transcription factor binding among humans.
Kasowski M, Grubert F, Heffelfinger C, Hariharan M, Asabere A, Waszak SM, Habegger L, Rozowsky J, Shi M, Urban AE, Hong MY, Karczewski KJ, Huber W, Weissman SM, Gerstein MB, Korbel JO, Snyder M. Kasowski M, et al. Among authors: karczewski kj. Science. 2010 Apr 9;328(5975):232-5. doi: 10.1126/science.1183621. Epub 2010 Mar 18. Science. 2010. PMID: 20299548 Free PMC article.
Regulatory variation within and between species.
Zheng W, Gianoulis TA, Karczewski KJ, Zhao H, Snyder M. Zheng W, et al. Among authors: karczewski kj. Annu Rev Genomics Hum Genet. 2011;12:327-46. doi: 10.1146/annurev-genom-082908-150139. Annu Rev Genomics Hum Genet. 2011. PMID: 21721942 Review.
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.
Performance comparison of exome DNA sequencing technologies.
Clark MJ, Chen R, Lam HY, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, Snyder M. Clark MJ, et al. Among authors: karczewski kj. Nat Biotechnol. 2011 Sep 25;29(10):908-14. doi: 10.1038/nbt.1975. Nat Biotechnol. 2011. PMID: 21947028 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.
Annotation of functional variation in personal genomes using RegulomeDB.
Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, Cherry JM, Snyder M. Boyle AP, et al. Among authors: karczewski kj. Genome Res. 2012 Sep;22(9):1790-7. doi: 10.1101/gr.137323.112. Genome Res. 2012. PMID: 22955989 Free PMC article.
122 results