Collins Publications

National Human Genome Research Institute

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

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

Special Volunteer, National Human Genome Research Institute
Director, National Institutes of Health

Selected Publications

Collins FS, Metherall JE, Yamakawa J, Pan J, Weissman SM, Forget BG. A point mutation in the A gamma- globin gene promoter in Greek hereditary persistence of fetal haemoglobin. Nature, 313:325-326. 1985. [PubMed]

Collins FS, Drumm ML, Cole JL, Lockwood WK, Vande Woude GF, Iannuzzi MC. Construction of a general human chromosome jumping library, with application to cystic fibrosis. Science, 235, 1046-1049. 1987. [PubMed]

Fountain JW, Wallace MR, Bruce MA, Seizinger BR, Menon AG, Gusella JF, Michels VV, Schmidt MA, Dewald GW, Collins FS. Physical mapping of a translocation breakpoint in neurofibromatosis. Science, 244, 1085-1087. 1989. [PubMed]

Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui L-C, Collins FS. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science, 245:1059-65. 1989. [PubMed]

Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Collins FS. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science, 249:181-186. 1990. [PubMed]

Ballester R, Marchuk D, Boguski M, Saulino A, Letcher R, Wigler M, Collins FS. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell, 63, 851-859. 1990. [PubMed]

Liu P, Tarle SA, Hajra A, Claxton DF, Marlton P, Freedman M, Siciliano MJ, Collins FS. Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science, 261, 1041-1044. 1993. [PubMed]

The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell, 72:971-983. 1993. [PubMed]

Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chesa L, Sanal O, Lavin MF, Jaspers NGJ, Taylor AMR, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science, 268, 1749-1753. 1995. [PubMed]

Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. Mutations in the human Jagged 1 gene are responsible for Alagille syndrome. Nat Genet, 16:235-242. 1997. [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]

Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, Prokunina-Olsson L, Ding CJ, Swift AJ, Narisu N, Hu T, Pruim R, Xiao R, Li XY, Conneely KN, Riebow NL, Sprau AG, Tong M, White PP, Hetrick KN, Barnhart MW, Bark CW, Goldstein JL, Watkins L, Xiang F, Saramies J, Buchanan TA, Watanabe RM, Valle TT, Kinnunen L, Abecasis GR, Pugh EW, Doheny KF, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science, 316:1341-1345. 2007. [PubMed]

Capell BC, Olive M, Erdos MR, Cao K, Faddah DA, Tavarez UL, Conneely KN, Qu X, San H, Ganesh SK, Chen X, Avallone H, Kolodgie FD, Virmani R, Nabel EG, Collins FS. A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model. Proc Natl Acad Sci USA, 105:15902-7. 2008. [PubMed]

Stitzel ML, Sethupathy P, Pearson DS, Chines PS, Song L, Erdos MR, Welch R, Parker SC, Boyle AP, Scott LJ, NISC Comparative Sequencing Program, Margulies EH, Boehnke M, Furey TS, Crawford GE, Collins FS.  Global epigenomics analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci.  Cell Metabolism, 12:443-55. 2010. [PubMed]

Cao K, Blair CD, Faddah DA, Kieckhaefer JE, Olive M, Erdos MR, Nabel EG, Collins FS.  Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts.  J Clin. Invest, 121, 2833-44. 2011. [PubMed]

Cao K, Graziotto JJ, Blair CD, Mazzulli JR, Erdos MR, Krainc D, Collins FS. Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells. Sci Transl Med, 3:89ra58. 2011. [PubMed]

Rees MG, Ng D, Ruppert S, Turner C, Beer NL, Swift AJ, Morken MA, Below JE, Blech I; NISC Comparative Sequencing Program, Mullikin JC, McCarthy MI, Biesecker LG, Gloyn AL, Collins FS. Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. J Clin Invest, 122:205-217. 2012. [PubMed]
Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, Mahadevan J, Peltonen S, Huopio H, Nuutila P, Narisu N, Goldfeder RJ, Stitzel ML, Lu S, Boehnke M, Urano F, Collins FS, Laakso M.  Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.  Diabetes, 62:3943-50. 2013. [PubMed]

Parker SC, Stitzel ML, Taylor DL, Orozco JM, Erdos MR, Akiyama JA, van Bueren KL, Chines PS, Narisu N; NISC Comparative Sequencing Program, Black BL, Visel A, Pennacchio LA, Collins FS; National Institutes of Health Intramural Sequencing Center Comparative Sequencing Program Authors; NISC Comparative Sequencing Program Authors. Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants. Proc Natl Acad Sci U S A, 110:17921-17926. 2013.  [PubMed]

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 Reviewed: July 10, 2014