Here you’ll find my publications. Please feel free to contact me if you have questions about any of them.

(Reverse chronological order):

Tragante et al., “Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci.” Am J Hum Genet. 2014 Feb 19. pii: S0002-9297(13)00613-7. doi: 10.1016/j.ajhg.2013.12.016.

Karczewski KJ, Snyder M, Altman RB, Tatonetti NP. “Coherent functional modules improve transcription factor target identification, cooperativity prediction, and disease association.” PLoS Genetics. 10(2): e1004122. doi:10.1371/journal.pgen.1004122.s012

Holmes MV et al., “Mendelian randomization of blood lipids for coronary heart disease.Eur Heart J. Epub 2014 Jan 27.

Karczewski KJ, Fernald GH, Martin AR, Snyder M, Tatonetti NP, Dudley JT. “STORM-Seq: An Open, Community-Based Pipeline for Processing Personal Genomics Data in the Cloud.PLOS ONE. 9(1): e84860. doi:10.1371/journal.pone.0084860

Karczewski KJ. “Progress in genomics according to bingo: 2013 edition.” Genome Biology. 2013 Dec 24;14(12):143.

Karczewski KJ, Montgomery SB. “Performance of genomic medicine.” Genome Biology. 2013 Dec 23;14(12):316.

Yoneyama S, Guo Y, Lanktree MB, Barnes MR, Elbers CC, Karczewski KJ, et al., “Gene-centric meta-analyses for central adiposity traits using up to 57,412 individuals of European descent confirm known loci and reveal several novel associations.Hum Mol Genet. 2013 Dec 17.

Franceschini N et al. “Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations.” Am J Hum Genet. 2013 Sep 5;93(3):545-54. doi: 10.1016/j.ajhg.2013.07.010. Epub 2013 Aug 22.

Salari K, Karczewski KJ, Hudgins L, Ormond KE. “Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine.PLOS ONE. 8(7): e68853. doi:10.1371/journal.pone.0068853

Caudy AA et al. “A New System for Comparative Functional Genomics of Saccharomyces Yeasts.” Genetics. Epub 2013 Jul 12.

Daneshjou R, Tatonetti NP, Karczewski KJ, Sagreiya H, Bourgeois S, Drozda K, Burmestor JK, Tsunoda T, Nakamura Y, Kubo M, Tector M, Limdi NA, Cavallari LH, Perera M, Johnson JA, Klein TE, Altman RB. “Pathway Analysis of Genome-Wide Data Improves Warfarin Dose Prediction.” BMC Genomics. 2013, 14(Suppl 3):S11 doi:10.1186/1471-2164-14-S3-S11. Epub 2013 May 28.

Karczewski KJ*, Dudley JT*, Kukurba KR, Chen R, Butte AJ, Montgomery SB, Snyder M. “Systematic functional regulatory assessment of disease-associated variants.Proc Natl Acad Sci U S A. Epub 2013 May 20. doi: 10.1073/pnas.1219099110.

Karczewski KJ. “The future of genomic medicine is here.” Genome Biol. 2013, 14:304. doi:10.1186/ gb-2013-14-3-304

Montgomery SB, Goode D, Kvikstad E, Albers CA, Zhang Z, Mu XJ, Ananda G, Howie B, The 1000 Genomes Pilot Project Consortium, MacArthur DG, Karczewski KJ, Smith KS, Anaya V, Richardson R, Sidow A, Duret A, Gerstein M, Makova K, Marchini J, McVean G, Lunter G. “The origin, evolutionary dynamics and functional impact of short insertion-deletion variants identified in 179 human genomes.” Genome Res. 2013 Mar 11. doi: 10.1101/gr.148718.112

Karczewski KJ, Daneshjou R, Altman RB. “Chapter 7: Pharmacogenomics.” PLoS Comput Biol. 2012 Dec 27; 8(12): e1002817. doi:10.1371/journal.pcbi.1002817

O’Huallachain M, Karczewski KJ, Weissman S, Urban AE, Snyder M. “Extensive Genetic Variation in Somatic Human Tissues.” Proc Natl Acad Sci U S A. 2012 Oct 30; 109(44): 18018-18023. doi: 10.1073/pnas. 1213736109. Epub 2012 Oct 5

The ENCODE Project Consortium. “An integrated encyclopedia of DNA elements in the human genome.” Nature. 2012 Sep 6;489(7414):57-74. doi: 10.1038/nature11247.

Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, Cherry JM, Snyder M. “Annotation of functional variation in personal genomes using RegulomeDB.” Genome Res. 2012 Sep;22(9):1790-7.

Adamcik J, Jeon J, Karczewski KJ, Metzler R, Dietler G. “Quantifying supercoiling-induced denaturation bubbles in DNA.” Soft Matter. Epub 2012 Jul 09. DOI: 10.1039/c2sm26089a

Chen R*, Mias G*, Li-Pook-Than J*, Jiang L*, Lam HYK, 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, AltmanRB, Butte AJ, Ashley EA, Nadeau KC, Gerstein M, Tang H and Snyder M. “Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes.” Cell.  2012 Mar 16;148(6):1293-307.

Karczewski KJ*, Tirrell RP*, Tatonetti NP, Dudley JT, Cordero P, Salari K, Altman RB, Snyder M, and Kim SK. “Interpretome: A Freely Available, Modular, and Secure Personal Genome Interpretation Engine.” Pac Symp Biocomput. Epub 2011 Oct 25. 17:339-350(2012).

Clark MJ, Chen R, Lam HY, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, Snyder M. “Performance comparison of exome DNA sequencing technologies.” Nat Biotechnol. 2011 Sep 25;29(10):908-14. doi: 10.1038/nbt.1975.

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. “Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.” PLoS Genet. 2011 Sep;7(9):e1002280. Epub 2011 Sep 15.

Karczewski KJ, Tatonetti NP, Landt SG, Slifer T, Yang X, Altman RB, Snyder M. “Cooperative transcription factor associations discovered using regulatory variation..” PNAS. Epub 2011 July 26.

Zheng W, Gianoulis TA, Karczewski KJ, Zhao H, Snyder M. “Regulatory Variation Within and Between Species.” Annual Review of Genomics and Human Genetics. Epub 2011 July 1.

Fernald GH, Capriotti E, Daneshjou R, Karczewski KJ, Altman RB. “Bioinformatics Challenges for Personalized Medicine.” Bioinformatics. 2011 Jul 1;27(13):1741-8. Epub 2011 May 19.

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. “Variation in transcription factor binding among humans.” Science. 2010 Apr 9;328(5975):232-5. Epub 2010 Mar 18.



RSS Recent Publications

  • Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci. Tragante V, Barnes MR, Ganesh SK, Lanktree MB, Guo W, Franceschini N, Smith EN, Johnson T, Holmes MV, Padmanabhan S, Karczewski KJ, Almoguera B, Barnard J, Baumert J, Chang YP, Elbers CC, Farrall M, Fischer ME, Gaunt TR, Gho JM, Gieger C, Goel A, Gong Y, Isaacs A, Kleber ME, Leach IM, McDonough CW, Meijs MF, Melander O, Nelson CP, Nolte IM, Pankratz N, Price TS, Shaffer J, Shah S, Tomaszewski M, van der Most PJ, Van Iperen EP, Vonk JM, Witkowska K, Wong CO, Zhang L, Beitelshees AL, Berenson GS, Bhatt DL, Brown M, Burt A, Cooper-Dehoff RM, Connell JM, Cruickshanks KJ, Curtis SP, Davey-Smith G, Delles C, Gansevoort RT, Guo X, Haiqing S, Hastie CE, Hofker MH, Hovingh GK, Kim DS, Kirkland SA, Klein BE, Klein R, Li YR, Maiwald S, Newton-Cheh C, O'Brien ET, Onland-Moret NC, Palmas W, Parsa A, Penninx BW, Pettinger M, Vasan RS, Ranchalis JE, M Ridker P, Rose LM, Sever P, Shimbo D, Steele L, Stolk RP, Thorand B, Trip MD, van Duijn CM, Verschuren WM, Wijmenga C, Wyatt S, Young JH, Zwinderman AH, Bezzina CR, Boerwinkle E, Casas JP, Caulfield MJ, Chakravarti A, Chasman DI, Davidson KW, Doevendans PA, Dominiczak AF, Fitzgerald GA, Gums JG, Fornage M, Hakonarson H, Halder I, Hillege HL, Illig T, Jarvik GP, Johnson JA, Kastelein JJ, Koenig W, Kumari M, März W, Murray SS, O'Connell JR, Oldehinkel AJ, Pankow JS, Rader DJ, Redline S, Reilly MP, Schadt EE, Kottke-Marchant K, Snieder H, Snyder M, Stanton AV, Tobin MD, Uitterlinden AG, van der Harst P, van der Schouw YT, Samani NJ, Watkins H, Johnson AD, Reiner AP, Zhu X, de Bakker PI, Levy D, Asselbergs FW, Munroe PB, Keating BJ

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