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Page 1
A robust benchmark for detection of germline large deletions and insertions.
Zook JM, Hansen NF, Olson ND, Chapman L, Mullikin JC, Xiao C, Sherry S, Koren S, Phillippy AM, Boutros PC, Sahraeian SME, Huang V, Rouette A, Alexander N, Mason CE, Hajirasouliha I, Ricketts C, Lee J, Tearle R, Fiddes IT, Barrio AM, Wala J, Carroll A, Ghaffari N, Rodriguez OL, Bashir A, Jackman S, Farrell JJ, Wenger AM, Alkan C, Soylev A, Schatz MC, Garg S, Church G, Marschall T, Chen K, Fan X, English AC, Rosenfeld JA, Zhou W, Mills RE, Sage JM, Davis JR, Kaiser MD, Oliver JS, Catalano AP, Chaisson MJP, Spies N, Sedlazeck FJ, Salit M. Zook JM, et al. Among authors: mullikin jc. Nat Biotechnol. 2020 Nov;38(11):1347-1355. doi: 10.1038/s41587-020-0538-8. Epub 2020 Jun 15. Nat Biotechnol. 2020. PMID: 32541955 Free PMC article.
Completing the map of human genetic variation.
Human Genome Structural Variation Working Group; Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. Human Genome Structural Variation Working Group, et al. Among authors: mullikin jc. Nature. 2007 May 10;447(7141):161-5. doi: 10.1038/447161a. Nature. 2007. PMID: 17495918 Free PMC article. No abstract available.
Mapping and sequencing of structural variation from eight human genomes.
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE. Kidd JM, et al. Among authors: mullikin jc. Nature. 2008 May 1;453(7191):56-64. doi: 10.1038/nature06862. Nature. 2008. PMID: 18451855 Free PMC article.
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK; NIH Intramural Sequencing Center (NISC); Chong K, Mullikin JC, Biesecker LG. Johnston JJ, et al. Among authors: mullikin jc. Am J Hum Genet. 2010 May 14;86(5):743-8. doi: 10.1016/j.ajhg.2010.04.007. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451169 Free PMC article.
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.
Teer JK, Bonnycastle LL, Chines PS, Hansen NF, Aoyama N, Swift AJ, Abaan HO, Albert TJ; NISC Comparative Sequencing Program; Margulies EH, Green ED, Collins FS, Mullikin JC, Biesecker LG. Teer JK, et al. Among authors: mullikin jc. Genome Res. 2010 Oct;20(10):1420-31. doi: 10.1101/gr.106716.110. Epub 2010 Sep 1. Genome Res. 2010. PMID: 20810667 Free PMC article.
The variant call format and VCFtools.
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R; 1000 Genomes Project Analysis Group. Danecek P, et al. Bioinformatics. 2011 Aug 1;27(15):2156-8. doi: 10.1093/bioinformatics/btr330. Epub 2011 Jun 7. Bioinformatics. 2011. PMID: 21653522 Free PMC article.
Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression.
Cheng L, Hansen NF, Zhao L, Du Y, Zou C, Donovan FX, Chou BK, Zhou G, Li S, Dowey SN, Ye Z; NISC Comparative Sequencing Program; Chandrasekharappa SC, Yang H, Mullikin JC, Liu PP. Cheng L, et al. Among authors: mullikin jc. Cell Stem Cell. 2012 Mar 2;10(3):337-44. doi: 10.1016/j.stem.2012.01.005. Cell Stem Cell. 2012. PMID: 22385660 Free PMC article.
Incidental medical information in whole-exome sequencing.
Solomon BD, Hadley DW, Pineda-Alvarez DE; NISC Comparative Sequencing Program; Kamat A, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Berkman BE, Chandrasekharappa SC, Mullikin JC. Solomon BD, et al. Among authors: mullikin jc. Pediatrics. 2012 Jun;129(6):e1605-11. doi: 10.1542/peds.2011-0080. Epub 2012 May 14. Pediatrics. 2012. PMID: 22585771 Free PMC article.
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association.
Solomon BD, Pineda-Alvarez DE, Hadley DW, Hansen NF, Kamat A, Donovan FX, Chandrasekharappa SC, Hong SK, Roessler E, Mullikin JC; NISC Comparative Sequencing Program. Solomon BD, et al. Among authors: mullikin jc. Mol Syndromol. 2013 Feb;4(1-2):27-31. doi: 10.1159/000345406. Mol Syndromol. 2013. PMID: 23653574 Free PMC article.
240 results