HomeAbout NHGRIFormer Director Francis S. CollinsFormer NHGRI Director Francis Collins' Biography Collins Publications

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Francis S. Collins, M.D., Ph.D.

Special Volunteer, National Human Genome Research Institute

Selected Publications

Crabtree J.S., Scacheri P.C., Ward J.M., McNally S.R., Swain G.P., Hage J.H., Hanahan D., Edlund H., Magnuson M.A., Garrett-Beal L., Burns A.L., Chandrasekharappa S.C., Marx S.J., Spiegel A.M., Collins F.S. Of mice and MEN1: insulinomas in a conditional mouse knockout. Molec Cell Biol, 23:6075-6085. 2003. [PubMed]

Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erd M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature, 423(6937):293-8. 2003. [PubMed]

Crawford G.E., Holt I.E., Mullikin J.C., Tai D., National Institutes of Health Intramural Sequencing Center, Green E.D., Wolfsberg T.G., Collins F.S.. Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites. Proc Natl Acad Sci USA 101:992-997. 2004. [PubMed]

Goldman R.D., Shumaker D.K., Erdos M.R., Eriksson M., Goldman A.E., Gordon L.B., Gruenbaum Y., Khuon S., Mendez M., Varga R., Collins F.S. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson¿Gilford progeria syndrome. Proc Natl Acad Sci USA, 101:8963-8968. 2004. [PubMed]

Silander, K., Mohlke K.L., Scott L.J., Peck E.C., Hollstein P., Skol A.D., Jackson A.U., Deloukas P., Hunt S., Stavrides G., Chines P.S., Erdos, M.R., Narisu N., Conneely K.N., Li C., Fingerlin T.E., Dhanjal S.K., Valle T.T., Bergman R.N., Tuomilehto, J., Watanabe R.M, Boehnke M., Collins F.S. Genetic variation near the hepatocyte nuclear factor-4a gene predicts susceptibility to type 2 diabetes. Diabetes, 53:1141-1149. 2004. [PubMed]

Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS. Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. PNAS, 102: 12879-12884. 2005. [PubMed]

Guttmacher A.E, Collins, F.S. Realizing the promise of genomics for biomedical research. JAMA, 294(11):1399-402. 2005. [PubMed].

Crawford GE, Holt IE, Whittle J, Webb BD, Tai D, Davis S, Margulies EH, Chen Y, Bernat JA, Ginsburg D, Zhou D, Luo S, Vasicek TJ, Daly MJ, Wolfsberg TG, Collins FS. Genome-wide mapping of DNase Hypersensitive sites using Massively Parallel Signature Sequencing (MPSS). Genome Research, 16(1) 123-131. 2006. [PubMed]

Varga R, Eriksson M, Erdos MR, Olive M, Harten I, Kolodgie F, Capell BC, Cheng J, Faddah D, Perkins S, Avallone H, San H, Qu X, Ganesh S, Gordon LB, Virmani R, Wight TN, Nabel EG, Collins FS. Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci USA, 103(9) 3250-3255. 2006. [PubMed]

Scacheri PC, Davis S, Odom DT, Crawford GE, Perkins S, et al. Genome-Wide Analysis of Menin Binding Provides Insights to MEN1 Tumorigenesis. PLoS Genet, 2(4)e51. 2006. [PubMed]

Crawford GE, Davis S, Scacheri PC, Renaud G, Halawi MJ, Erdos MR, Green R, Meltzer PS, Wolfsberg TG, Collins FS. DNase-chip: a high-resolution method to identify DNase I hypersensitive sites using tiled microarrays. Nature Methods, 3(7) 503-509. 2006. [PubMed]

Bonnycastle LL, Willer CJ, Conneely KN, Jackson AU, Burrill CP, Wantanabe RM, Chines PS, Narisu N, Scott LJ, Enloe ST, Swift AJ, Duren WL, Stringham HM, Erdos MR, Reibow NL, Buchanan TA, Valle TT, Tuomilehto J, Bergman RN, Mohlke KL, Boehnke M, and Collins FS. Common Variants in MODY Contribute to Risk of Type 2 Diabetes in Finns. Diabetes, (9):2534-40. 2006. [PubMed]

Feero, WG, Guttmacher, AE, Collins. The Genome Gets Personal - Almost. JAMA, 299(11):1351-1352. 2008. [Full Text]

Books

Guttmacher,Alan E, Collins, Francis S., Drazen, Jeffrey M. eds. Forward by Elias Zerhouni, M.D. Genomic Medicine: Articles from the New England Journal of Medicine. Baltimore: Johns Hopkins University Press, 2004.

Gelehrter, Thomas D., Collins, Francis S., Ginsberg, David. Principles of Medical Genetics, 2nd ed. Baltimore: Lippincott, Williams & Wilkins, 1998.

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Last Updated: September 22, 2008