Francis S. Collins, M.D., Ph.D.
Director, National Human Genome Research Institute
Senior Investigator, Genome Technology Branch
Selected Publications
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science, 276:404-407. 1997. [PubMed]
Lipkin SM, Wang V, Jacoby R, Banerjee-Basu S, Baxevanis AD, Lynch HT, Elliott RM, Collins FS. MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. Nat Genet, 24:27-35. 2000. [PubMed]
Ghosh S, Watanabe RM, Valle TT, Hauser ER, Magnuson VL, Langefeld CD, … Buchanan TA, Tuomilehto J, Bergman RN, Collins FS, Boehnke M. The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. Am J Hum Genet, 67:1174-1185. 2000. [PubMed]
Watanabe RM, Ghosh S, Langefeld CD, Valle TT, Hauser ER, Magnuson VL, … Buchanan TA, Tumilehto J, Bergman RN, Collins FS, Boehnke M. The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci. Am J Hum Genet, 67:1186-1200. 2000. [PubMed]
Crabtree JS, Scacheri PC, Ward JM, Garrett-Beal L, Emmert-Buck MR, Edgemon KA, Lorand D, Libutti SK, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS. A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc Natl Acad Sci U S A, 98:1118-1123. 2001. [PubMed]
Mohlke KL, Erdos MR, Scott LJ, Fingerlin TE, Jackson AU, Silander K, Hollstein P, Boehnke M, Collins FS. High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools. PNAS, 99:16928-16933. 2002 [PubMed]
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erd MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature, 423(6937):293-8. 2003. [PubMed]
