Mullikin Publications

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


James C. Mullikin, Ph.D.

Associate Investigator, Genome Technology Branch
Head, Comparative Genomics Unit
Director, NIH Intramural Sequencing Center

Selected Publications

Margulies E.H., Vinson, J.P., Miller, W., Jaffe, D.B., Lindblad-Toh, K., Chang, J.L., Green, E.D., Lander, E.S., Mullikin, J.C., Clamp, M. An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing. Proc Natl Acad Sci USA, 102(13):4795-800. 2005. [PubMed]

The International HapMap Consortium. A haplotype map of the human genome. Nature, 437(7063):1299-320. 2005. [PubMed]

Ryan, J.F., Burton P.M., Mazza, M.E., Kwong, G.K., Mullikin, J.C., Finnerty, J.R. The cnidarian-bilaterian ancestor possessed at least 56 homeoboxes. Evidence from the starlet sea anemone, Nematostella vectensis. Genome Biol, 7(7):R64. 2006. [PubMed]

Spencer, C.C., Deloukas, P., Hunt, S., Mullikin, J., Myers, S., Silverman, B., Donnelly, P., Bentley, D., McVean, G. The influence of recombination on human genetic diversity. PLoS Genet, 2(9):e148. 2006. [PubMed]

Keinan A, Mullikin JC, Patterson N, Reich D. Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans. Nat Genet, 39(10):1251-5. 2007. [PubMed]

The International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs.  Nature, 449:851-861. 2007. [PubMed]

Pontius JU, Mullikin JC, Smith DR; Agencourt Sequencing Team, Lindblad-Toh K, Gnerre S, Clamp M, Chang J, Stephens R, Neelam B, Volfovsky N, Schäffer AA, Agarwala R, Narfström K, Murphy WJ, Giger U, Roca AL, Antunes A, Menotti-Raymond M, Yuhki N, Pecon-Slattery J, Johnson WE, Bourque G, Tesler G; NISC Comparative Sequencing Program, O'Brien SJ. Initial sequence and comparative analysis of the cat genome. Genome Res, 17(11):1675-89. 2007. [PubMed]

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, Tuzun 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 and Eichler EE. Mapping and sequencing of structural variation from eight human genomes. Nature, 453:56-64. 2008. [PubMed]

Keinan A, Mullikin JC, Patterson N and Reich D. Accelerated genetic drift on chromosome X during the human dispersal out of Africa. Nat Genet, 41:66-70. 2009. [PubMed]

Lagresle-Peyrou C, Six EM, Picard C, Rieux-Laucat F, Michel V, Ditadi A, Chappedelaine CD, Morillon E, Valensi F, Simon-Stoos KL, Mullikin JC, Noroski LM, Besse C, Wulffraat NM, Ferster A, Abecasis MM, Calvo F, Petit C, Candotti F, Abel L, Fischer A and Cavazzana-Calvo M, Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet 41:106-111, 2009. [PubMed]

Reich D, Nalls MA, Kao WH, Akylbekova EL, Tandon A, Patterson N, Mullikin J, Hsueh WC, Cheng CY, Coresh J, Boerwinkle E, Li M, Waliszewska A, Neubauer J, Li R, Leak TS, Ekunwe L, Files JC, Hardy CL, Zmuda JM, Taylor HA, Ziv E, Harris TB, Wilson JG. Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. PLoS Genet, 5(1). Epub 2009 Jan 30, 2009. [PubMed]

Sun JX, Mullikin JC, Patterson N, Reich DE. Microsatellites are molecular clocks that support accurate inferences about history. Mol Biol Evol, 26(5):1017-27. 2009. [PubMed]

Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC; NISC Comparative Sequencing Program, Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, Cannon RO, Green ED.  The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res, 19(9):1665-74. 2009. [PubMed]

Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D. Mutations in the Lysosomal Enzyme-Targeting Pathway and Persistent Stuttering.  N Engl J Med, 362(8):677-85. 2010. [PubMed]

Woolfe A, Mullikin JC, Elnitski L. Genomic features defining exonic variants that modulate splicing. Genome Biol,11(2):R20. 2010. [PubMed]

Schuster SC, Miller W, Ratan A, Tomsho LP, Giardine B, Kasson LR, Harris RS, Petersen DC, Zhao F, Qi J, Alkan C, Kidd JM, Sun Y, Drautz DI, Bouffard P, Muzny DM, Reid JG, Nazareth LV, Wang Q, Burhans R, Riemer C, Wittekindt NE, Moorjani P, Tindall EA, Danko CG, Teo WS, Buboltz AM, Zhang Z, Ma Q, Oosthuysen A, Steenkamp AW, Oostuisen H, Venter P, Gajewski J, Zhang Y, Pugh BF, Makova KD, Nekrutenko A, Mardis ER, Patterson N, Pringle TH, Chiaromonte F, Mullikin JC, Eichler EE, Hardison RC, Gibbs RA, Harkins TT, Hayes VM. Complete Khoisan and Bantu genomes from southern Africa. Nature, 18;463(7283):943-7. 2010. [PubMed]

Green RE, Krause J, Briggs AW, Maricic T, Stenzel U, Kircher M, Patterson N, Li H, Zhai W, Fritz MH, Hansen NF, Durand EY, Malaspinas AS, Jensen JD, Marques-Bonet T, Alkan C, Prüfer K, Meyer M, Burbano HA, Good JM, Schultz R, Aximu-Petri A, Butthof A, Höber B, Höffner B, Siegemund M, Weihmann A, Nusbaum C, Lander ES, Russ C, Novod N, Affourtit J, Egholm M, Verna C, Rudan P, Brajkovic D, Kucan Z, Gusic I, Doronichev VB, Golovanova LV, Lalueza-Fox C, de la Rasilla M, Fortea J, Rosas A, Schmitz RW, Johnson PL, Eichler EE, Falush D, Birney E, Mullikin JC, Slatkin M, Nielsen R, Kelso J, Lachmann M, Reich D, Pääbo S. A draft sequence of the Neandertal genome. Science, 328(5979):710-22. 2010. [PubMed]

Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK; NIH Intramural Sequencing Center, Chong K, Mullikin JC, Biesecker LG. Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate. Am J Hum Genet, 86(5):743-8. 2010. [PubMed]

Ng D, Spaulding E; NIH Intramural Sequencing Centre, Mullikin JC, Biesecker LG. Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations. Atherosclerosis, 211(2):397-8. 2010. [PubMed]

Mullikin JC, Hansen NF, Shen L, Ebling H, Donahue WF, Tao W, Saranga DJ, Brand A, Rubenfield MJ, Young AC, Cruz P; NISC Comparative Sequencing Program, Driscoll C, David V, Al-Murrani SW, Locniskar MF, Abrahamsen MS, O'Brien SJ, Smith DR, Brockman JA. Light whole genome sequence for SNP discovery across domestic cat breeds. BMC Genomics, 11:406. 2010. [PubMed]

Teer JK, Mullikin JC. Exome Sequencing: The Sweet Spot Before Whole Genomes. Hum Mol Genet, Epub 2010 Aug 12. 2010. [PubMed]

Top of page

Last Reviewed: February 21, 2012