Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

127 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
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.
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.
Extensive genetic variation in somatic human tissues.
O'Huallachain M, Karczewski KJ, Weissman SM, Urban AE, Snyder MP. O'Huallachain M, et al. Among authors: karczewski kj. Proc Natl Acad Sci U S A. 2012 Oct 30;109(44):18018-23. doi: 10.1073/pnas.1213736109. Epub 2012 Oct 5. Proc Natl Acad Sci U S A. 2012. PMID: 23043118 Free PMC article.
127 results