HomeAbout NHGRIThe Director Director Francis Collins' Curriculum Vitae

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Curriculum Vitae

Francis Sellers Collins, M.D., Ph.D.

Contents

	Education
		Post-graduate Training
	Academic and Government Appointments
	Scientific Activities
	Certificates & Licensure
	Honors & Awards
	Membership & Offices in Professional Societies
	Bibliography
		Publications In Peer-Reviewed Journals
		Publications in Non Peer-Reviewed Journals
		Books

Education

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Postgraduate Training

1977-78 Intern in Medicine, North Carolina Memorial Hospital, Chapel Hill, North Carolina
1978-80 Assistant Resident in Medicine, North Carolina Memorial Hospital, Chapel Hill, North Carolina
1980-81 Chief Resident in Medicine, North Carolina Memorial Hospital, Chapel Hill, North Carolina
1981-84 Fellow in Human Genetics and Pediatrics, Yale University School of Medicine, New Haven, Connecticut

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Academic and Government Appointments

1984-88 Assistant Professor of Internal Medicine and Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan
1987-88 Assistant Investigator, Howard Hughes Medical Institute, Ann Arbor, Michigan
1987-91 Chief, Division of Medical Genetics, Department of Internal Medicine, University of Michigan
1988-91 Associate Professor of Internal Medicine and Human Genetics, University of Michigan
1991-93 Professor of Internal Medicine and Human Genetics, University of Michigan
1991-93 Investigator, Howard Hughes Medical Institute, Ann Arbor, Michigan
1993-00 Professor of Internal Medicine and Human Genetics (On Leave), University of Michigan
1993-00 Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

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Scientific Activities

Editorial Boards

Associate Editor, The American Journal of Human Genetics, 1986-89
Associate Editor, Genomics, 1986 -
Associate Editor, Genes, Chromosomes, and Cancer, 1989 -
Associate Editor, Somatic Cell and Molecular Genetics, 1989 -
Associate Editor, Human Molecular Genetics, 1991 -
Communicating Editor, Human Mutation, 1992 -
Associate Editor, Functional and Integrative Genomics, 1999 -

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Certification and Licensure

Board of Medical Examiners, State of North Carolina, 1977
American Board of Internal Medicine, 1980
Board of Medical Examiners, State of Connecticut, 1981
American Board of Medical Genetics, 1984
Board of Medical Examiners, State of Michigan, 1984
Board of Physician Quality Assurance, State of Maryland, 2000

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Honors and Awards

Dean's Prize for Academic Excellence, 1970
National Science Foundation Graduate Fellowship, 1970-73
Morehead Foundation Fellow, 1973-77
Alumni Loyalty Merit Award, 1974
Deborah C. Leary Research Award, 1975
First Prize, Student Research Day, 1975
Riggins Scholarship, 1975
Heusner Pupil Award, 1976
W. Reece Berryhill Scholarship, 1976
Medical Faculty Award, 1976
Isaac Hall Manning Award, 1977
Alpha Omega Alpha, elected junior year. President of UNC Chapter, 1976-77
Intern of the Year Award, 1978
Henry C. Fordham Senior Resident Award, 1980
Charles E. Culpepper Foundation Fellow, 1983-84
Cooley's Anemia Foundation Fellow, 1983-84
Anthony Renda Research Grant, 1984-85
Hartford Foundation Fellow, 1985-87
Jerome Conn Research Award, 1986
Paul di Sant'Agnese Award of the Cystic Fibrosis Foundation, 1989
Honorary Doctor of Science, Emory University, 1990
James A. Shannon Lecturer, Massachusetts General Hospital, 1990
Elizabeth Crosby Teaching Award, 1990
Gairdner Foundation International Award, 1990
Von Recklinghausen Award of the National Neurofibromatosis Foundation, 1990
Michiganian of the Year, The Detroit News, 1990
Lynen Medal of the Miami Bio/Technology Symposium, 1991
Young Investigator Award of the American Federation for Clinical Research, 1991
Honorary Doctor of Humane Letters, Mary Baldwin College, 1991
Doris Tulcin Award for Cystic Fibrosis Research, 1991
Distinguished Faculty Achievement Award, University of Michigan, 1991
National Medical Research Award, National Health Council, 1991
Dickson Prize, University of Pittsburgh, 1991
88th Christian A. Herter Lecturer, New York University Medical Center, 1992
E. Mead Johnson Award for Research in Pediatrics, 1992
Honorary Doctor of Science, Yale University, 1992
Joseph Levy Memorial Lecture, The Queen's University of Belfast, 1992
Priscilla White Lecturer, Joslin Diabetes Center, 1993
Richard and Hinda Rosenthal Award, American College of Physicians, 1993
Jack St. Clair Kilby Award, 1993
Honorary Doctor of Science, The Mount Sinai School of Medicine, 1993
Kaiser Permanente Award for Excellence in Teaching, University of Michigan, 1993
National Medical Research Award (as member of Huntington's Disease Collaborative Research Group), National Health Council, 1993
Sarstedt Prize for Scientific Research, Dresden, Germany, 1993
CIBA-Geigy/Drew Award in Biomedical Research, Drew University, 1993
John M. Nokes Lecture, University of Virginia, 1994
National Organization for Rare Disorders Scientific Leadership Award, 1994
Honorary Doctor of Science, University North Carolina-Chapel Hill, 1994 (Commencement speaker)
Nelson Award, University of California-Davis, 1994
Lovelace Institute Award for Excellence in Environmental Research, 1994
George D. Aiken Lecture, University of Vermont, 1994
American Academy of Achievement Golden Plate Award, 1994
Steven C. Beering Award for Outstanding Achievement in Biomedical Science, Indiana University, 1994
The Baxter Award for Distinguished Research in Biomedical Sciences, Association of American Medical Colleges, 1994
Willis M. Tate Distinguished Lecture, Southern Methodist University, Dallas, Texas, 1994
Jean-Pierre Lecocq Prize, Transgene, S.A., Strasbourg, France, 1994
Lila Gruber Cancer Research Award, American Academy of Dermatology, 1995
Jeffrey Modell Foundation Lifetime Achievement Award, The Jeffrey Modell Foundation, Inc. 1995
Neuhauser Lecture, The Society for Pediatric Radiology, 1995
Lee Farr Lecture, Yale University, 1995
American Association for Clinical Chemistry National Lectureship Award, 1995
Hatfield Lecture, Oregon Health Sciences University, 1995
Susan G. Komen Breast Cancer Foundation National Award for Scientific Distinction, 1995
John Hickam Lecture, Central Society for Clinical Research, 1995
Medical Research Council Lecture, Society of Toxicology, 1996
Lineberger Lecturer, University of North Carolina, 1996
UCLA Lectureship Award, 1996
Hollister Lecture, Northwestern University, 1996
Honorary Doctor of Science, George Washington University, 1996
9th Annual Donald Ware Waddell Lectureship, Arizona Cancer Center, 1997
Second Annual James Watson Lecture, The Genome Action Coalition, 1997
James Earle Ash Lecture, Armed Forces Institute of Pathology, 1997
American Cancer Society/The Society of Surgical Oncology, Inc. Basic Science Lecture Annual Award, 1997
University of Michigan, Department of Pediatrics 75th Anniversary Guest Lecture, 1997
Brian Blades Memorial Lecture, George Washington University, 1997
Breath of Life Award, Cystic Fibrosis Foundation, 1997
Klemperer Award Lecture, American College of Rheumatology, 1997
Commissioned Officers Association of the U.S. Public Health Service Health Leader of the Year Award, 1997
Meritorious Executive Award, U.S. Department of Health and Human Services, 1997
Mendel Medal, Villanova University, 1998
Carl W. Gottschalk Awardee and Lecture, The University of North Carolina, 1998
Honorary Doctor of Science, University of Pennsylvania, 1998
Champions of Pediatric Research Award, Children's National Medical Center, 1998
C. Clark Cockerham Lecture, The University of North Carolina, 1998
Ralph Spielman Memorial Lecture, Bucknell University, 1998
Noble Lecture Respondent, Harvard University, 1998
Fifth Annual Maurice Galante Lecture, UCSF, 1998
Third Annual James Watson Lecture, The Genome Action Coalition, 1998
Association of Molecular Pathology Award for Excellence in Molecular Diagnostics, 1998
American Heart Association Lewis A. Conner Convocation Lecture, 1998
Medical Student Award for Teaching Excellence in Component 1, University of Michigan, 1999
Shattuck Lecture, Massachusetts Medical Society, 1999
Wilbur Lucius Cross Medal, Yale Graduate School Association, 1999
The Computerworld Smithsonian Institution Award, 1999
Arthur S. Flemming Award, The George Washington University, 1999
New York Academy of Sciences, Genetics in the New Millennium Distinguished Honoree, 2000
Presidential State of the Union Honoree, 2000
Dr. Martin Rodbell Lecture, National Institute of Environmental and Health Sciences, 2000
Association of American Physicians, George M. Kober Lecture Award, 2000
Honorary Doctor of Science, Brown University, 2000
University of California, San Diego School of Medicine Commencement Address, 2000
University of Michigan Medical School Commencement, Keynote Speaker, 2000
Carter Lecture, British Society for Human Genetics, 2000
Neel Distinguished Research Lecture, American Academy of Otolaryngology, 2000
Scientist of the Year, National Disease Research Interchange, 2000
Tinsley Randolph Harrison Lecture, Vanderbilt University, 2000
Sheen Award, New Jersey Chapter, American College of Surgeons, 2000
Charles B. Smith Visiting Research Professor, Memorial Sloan-Kettering Cancer Center, 2000
Hilldale Lecture in Biological Sciences, University of Wisconsin-Madison, 2001
The American Society for Public Administration, The National Capital Area Chapter, President's Award for Outstanding Recent Contributions in the Field of Public Administration, 2001
Virginia's Outstanding Scientist, 2001
Cosgrove Lecture, The American College of Obstetricians and Gynecologists 50th Anniversary Meeting, 2001
The University of Virginia Commencement Address, 2001
Loma Linda University School of Medicine Commencement Address and Boucek Award, 2001
Victor and Clara Award Lecture, XVII World Congress of Neurology, United Kingdom, 2001
The Biotechnology Industry Organization and The Chemical Heritage Foundation Third Annual Biotechnology Award, 2001
Daniel Nathans Memorial Lecture, Van Andel Research Institute, 2001
2001 Guthrie Family Humanitarian Award, Huntington's Disease Society of America
Spain's Prince of Asturias Award for Technical and Scientific Research, 2001
Distinguished Achievement and Leadership Award, American Skin Association, 2001
2001 Scientific Achievement Medal, House of Delegates, American Medical Association
Warren Triennial Prize Lecture, Massachusetts General Hospital, 2002
Willis M. Tate Distinguished Lecture, Southern Methodist University, 2002
Brennan Lecture, Georgetown University, 2002
20th Annual Spicer-Breckenridge Memorial Lecture, University of North Carolina, 2002
Mayo Medical School and Mayo Graduate School Commencement Address, 2002
Physician-in-Chief Pro Tempore, Brigham and Women's Hospital and Harvard Medical School, 2002
Presidential Award, Zeta Beta Sorority, Inc., 2002
2002 Joseph Leiter Lecture Lectureship, National Library of Medicine and the Medical Library Association, 2002
Bernard Sachs Lecturer, Child Neurology Society, 2002
Lifetime Achievement Award, Virginia Biotechnology Association, 2002
2002 Gairdner Foundation International Award of Merit
2002 Stokes Lecturer, University of Pennsylvania, 2002
William Belden Noble Lecturer, Harvard Memorial Church, 2003
51st National Prayer Breakfast Leadership Luncheon Speaker, 2003
American College of Physicians-American Society of Internal Medicine Award, 2003
Walker Prize, Science Museum of Boston, Massachusetts, 2003
Detroit Science & Technology Leadership Award, 2003
Secretary of the Department of Energy Gold Award, 2003

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Membership And Offices in Professional Societies

American Association for the Advancement of Science, 1982 -
American Society of Human Genetics, 1983 -
Human Genome Committee, 1989-1993
Ad Hoc Committee on Cystic Fibrosis Screening, 1989-93
Board of Directors, 1991-93
American Scientific Affiliation, 1984 -
American Federation for Clinical Research, 1985 -
American Society for Microbiology, 1985 -
American Society of Hematology, 1988-98
American Society for Clinical Investigation, 1988 -
Human Genome Organization (HUGO), 1989 -
Executive Council, 1989-93
Institute of Medicine, 1991-
Association of American Physicians, 1992 -
American Medical Association (#0360-1770-112), 1993 -
American College of Medical Genetics (Founding Fellow), 1993 -
National Academy of Sciences, 1993 -
Molecular Medicine Society (Charter Member), 1994 -
American Academy of Arts and Sciences (Fellow), 1998 -

Teaching Activities (University of Michigan)

Course Co-director (with Drs. Thomas Gelehrter and David Ginsburg) of Medical Genetics (First year medical student course), 1986-2002
Speaker, Advances in Internal Medicine Course, 1984-92
Director, Internal Medicine Symposium on "Molecular Genetics and Clinical Medicine; The Emerging Interface," June 1985
Course Director, Genetics Short Course on "Human Gene Mapping," May 1986
Guest Lecturer, Human Genetics 542, 1989-93

Committee and Administrative Services

Chairman, House Staff Council, North Carolina Memorial Hospital, 1980-81
Executive Committee of the Medical Staff, North Carolina Hospital, 1980-81
Search Committee, Chairmanship of Microbiology and Immunology, 1985-86
Graduate Admissions Committee, Department of Human Genetics, 1985-86
Chairman, Preliminary Exam Committee on Genetics and Nucleic Acids, Cell and Molecular Biology Program, 1986
Nomenclature and Clinical Diseases Committees, International Workshop in Human Gene Mapping (HGM9), 1987
Member, Scientific Advisory Board, Hereditary Disease Foundation, 1987-93
Director, Neurofibromatosis Center, University of Michigan Medical Center, 1987-93
Research Advisory Committee, Department of Human Genetics, 1987-93
Co-Chairman, Steering Committee, International Consortium on NF1 Linkage Analysis (sponsored by the National Neurofibromatosis Foundation), 1988
Member, NIH Ad Hoc Program Advisory Committee on Complex Genomes, 1988
Member, NIH Ad Hoc Study Section to Review Grants Submitted in Response to RFA "Immortalized Cells for Cystic Fibrosis Research," 1988
Scientific Advisory Board, National Neurofibromatosis Foundation, 1988-93
Co-Chairman, Research Advisory Board, 1989-93
Chairman, Ad Hoc Study Section to Review Proposals on "Gene Therapy for Cystic Fibrosis," CF Foundation, 1989
Vice-Chairman, Gordon Conference on Molecular Genetics, 1989
External Advisory Committee, Duke University Program on Neurogenetics, 1989-93
Co-Chairman, Third Annual North American Conference on Cystic Fibrosis, 1989
Co-Chairman, International Conference on Cystic Fibrosis, 1990
Member, NIH Ad Hoc Study Section to Review Proposals on an "Index Marker Genetic Map," 1990
Chairman, Gordon Conference on Molecular Genetics, 1991
Chairman, Workshop on "Neurofibromatosis", International Congress of Human Genetics, 1991
Member, NIH Advisory Council to the National Center for Human Genome Research, 1991-93
Director, Executive Committee for the "Experimental Models for Gene Therapy" Program Project, 1990-91; Associate Director, 1991-1993
Director, Executive Committee for "Genomic Technology and Genetic Disease" Human Genome Center, 1990-93
Co-Director, Center for Molecular Genetics, 1990-91
External Advisory Committee, Washington University Human Genome Center, 1991-93
Chairman, Cystic Fibrosis Foundation Conference on "Gene Therapy for Cystic Fibrosis," 1991
Member, Medical and Scientific Advisory Board of the National Vascular Malformations Foundation, Inc., 1991-93
Member, Medical Advisory Board, HHT Foundation International, Inc. 1993
Member, Scientific Advisory Board, National Marfan Foundation, 1993
Chairman, National Advisory Council on Human Genome Research, 1993 -
Member, Search Committee for Institute Director, NIH/NINDS, 1993-94
Co-Chair, Breakout Panel on Basic Science, The Secretary's Conference on Breast Cancer, 1993
Co-Chair, Breakout Panel on Internationalization of Research, Forum on Science and the National Interest, 1994
Co-Chair, Working Group on Hereditary Susceptibility, National Action Plan for Breast Cancer, 1994-99
Member, SBRS Advisory Committee, 1995-1998
Member, Cancer Genetics Working Group, National Cancer Institute, 1996-99
Member, Diagnostic Development Working Group, National Cancer Institute, 1996-99
Chair, Board of Governors, Center for Inherited Disease Research, 1996 -
Co-Chair, Steering Committee, National Coalition for Health Professional Education in Genetics, 1996 -
Member, Interagency Group on Genetic Testing, Department of Health and Human Services, 1997 -
Chair, NCBI Resources Committee, NIH, 1998 -
Member, Search Committee for Institute Director, NIH/NIDDK, 1998-99
Liaison Member, Secretary's Advisory Committee on Genetic Testing, 1999-2002
Co-Chair, Search Committee for Institute Director, NIH/NIMH, 2001-2002
Member, NIH Administrative Restructuring Advisory Committee, 2003
Co-Chair, Search Committee for Institute Director, NIH/NHLBI, 2003-
Member, NIH Steering Committee, 2003-
Liaison Member, Secretary's Advisory Committee on Genetics, Health, and Society, 2003-

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Bibliography

Completed Publications in Scientific Journals

Peer Reviewed Articles

1. Trindle CO, Collins FS: Energy-based formalism for mapping analysis of concerted reactions. Int J Quantum Chem 1971; 4: 195-204.
   
   
2. Collins FS, George JK, Trindle CO: Molecular orbital view of the stereochemical behavior in the interaction of bicyclo [2.1.0.] pentane and unsaturated molecules. J Am Chem Soc 1971; 94:3732-3737.
   
   
3. Collins FS, Preston RK, Cross RJ: Vibrationally inelastic scattering of H+ + H2. Chem Phys Lett 1974; 25:608-610.
   
   
4. Collins FS, Cross RJ: Vibrationally inelastic scattering at high energies: H+ + H2. J Chem Phys 1976; 65:644-652.
   
   
5. Collins FS, Ney RL, Hadler NM, McMillan CW, Mangano C: The medical dilemma - professional demands and personal needs. The Pharos 1978: 41:29-34.
   
   
6. Collins FS, Summer GK: Determination of glutamine and glutamic acid in biological fluids by gas chromatography. J Chromatog 1978; 145:456-463.
   
   
7. Collins FS, Summer GK, Schwartz RP, Parke JC: Neonatal argininosuccinic aciduria. Survival after early diagnosis and dietary management. J Pediatrics 1980; 96:429-431.
   
   
8. Collins FS, Orringer EP: Pulmonary hypertension and cor pulmonale in the sickle hemoglobinopathies. Am J Med 1983; 73:814-821.
   
   
9. Collins FS, Mahoney MJ: Hydrocephalus and abnormal digits after failed first trimester prostaglandin abortion attempt. J Pediatrics 1983; 102:620-621.
   
   
10. Collins FS, Weissman SM: The molecular genetics of human hemoglobin. Prog Nucl Acids Res Mol Biol 1984; 31:351-458.
    
    
11. Stoeckert C, Collins FS, Weissman SM: Human fetal globin DNA sequences suggest novel conversion event. Nucl Acids Res 1984; 12:4469-4479.
    
    
12. Collins FS, Stoeckert C, Serjeant G, Forget BG, Weissman SM: G + Hereditary persistence of fetal hemoglobin: Cosmid cloning and identification of a specific mutation 5' to the G gene. Proc Natl Acad Sci USA 1984; 81:4894-4898.
    
    
13. Collins FS, Boehm CD, Waber PG, Stoeckert CJ, Weissman SM, Forget BG, Kazazian HH: Concordance of a point mutation 5' to the G -globin gene with G + HPFH in the black population. Blood 1984; 64: 1292-1296.
    
    
14. Jennings T, Duray PH, Collins FS, Battaglini J, Enzinger FM: Infantile myofibromatosis: evidence for an autosomal dominant disorder. Am J Surg Path 1984; 8:529-538.
    
    
15. Collins FS, Weissman SM: Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method. Proc Natl Acad Sci USA 1984; 81:6812-6816.
    
    
16. Collins FS, Metherall JE, Yamakawa M, Pan J, Weissman SM, Forget BG: A point mutation in the A -globin gene promoter in Greek hereditary persistence of fetal haemoglobin. Nature 1985; 313: 325-326.
    
    
17. Waber PG, Bender MA, Gelinas RE, Kattamis C, Karaklis A, Sofroniadou K, Stamatoyannopoulos G, Collins FS, Forget BG, Kazazian HH: Concordance of a point mutation 5' to the A -globin gene with A + hereditary persistence of fetal hemoglobin in Greeks. Blood 1986; 67:551-554.
    
    
18. Metherall JE, Collins FS, Pan J, Weissman SM, Forget BG: Beta-thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron. EMBO Journal 1986; 5:2551-2557.
    
    
19. 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 1987; 235: 1046-1049.
    
    
20. Treisman J, Collins FS: Adult Turner syndrome associated with chylous ascites and vascular anomalies. Clin Genet 1987; 31:218-223.
    
    
21. Smith CL, Lawrance SK, Gillespie GA, Cantor CR, Weissman SM, Collins FS: Mapping and cloning macro-regions of mammalian genomes. Methods Enzymology 1987; 151:461-489.
    
    
22. Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Farynian AG, Chao MV, Huson S, Korf BR, Parry DM, Pericak-Vance MA, Collins FS, Hobbs WJ, Falcone BG, Iannazzi JA, Roy JC, St George-Hyslop PS, Tanzi RE, Bothwell MA, Upadhyaya M, Harper P, Goldstein AE, Hoover DL, Bader JL, Spence MA, Mulvihill JJ, Aylsworth AS, Vance JM, Rossenwasser GOD, Gaskell PC, Roses AD, Martuza RL, Breakefield XO, Gusella JF: Genetic linkage of Von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 1987; 49:589-594.
    
    
23. Iannuzzi MC, Konkle BA, Ginsburg DL, Collins FS: RsaI RFLP in the human von Willebrand factor gene. Nucl Acids Res 1987; 15:5905.
    
    
24. Seashore JH, Collins FS, Markowitz RJ, Seashore MR: Familial apple peel jejunal atresia: surgical, genetic and radiographic aspects. Pediatrics 1987; 80:540-544.
    
    
25. Diehl SR, Boehnke ML, Collins FS, Erickson RP, Karolyi IJ, Ploughman LM, Pericak-Vance MA, Aylsworth AS, Roses AD: Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8. J Med Genet 1987; 24:532-534.
    
    
26. Collins FS, Cole JL, Lockwood WK, Iannuzzi MC: The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases. Blood 1987; 70:1797-1803.
    
    
27. Konkle BA, Kim S, Iannuzzi MC, Alani R, Collins FS, Ginsburg DL: SacI RFLP in the human von Willebrand factor gene. Nucl Acids Res 1987; 15:6766.
    
    
28. Stephens K, Riccardi VM, Rising M, Ng S, Green P, Collins FS, Rediker KS, Powers JA, Parker C, Donis-Keller H: Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families. Genomics 1987; 1:353-357.
    
    
29. Diehl SR, Boehnke ML, Erickson RP, Baxter AB, Bruce MA, Lieberman JL, Platt DJ, Ploughman LM, Seiler KA, Sweet AM, Collins FS: Linkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17. Genomics 1987; 1:361-363.
    
    
30. Engelke D, Hoener P, Collins FS: Direct sequencing of enzymatically amplified human genomic DNA. Proc Natl Acad Sci USA 1988; 85:544-548.
    
    
31. Kenwrick SJ, Smith TJ, England S, Collins FS, Davies KE: Localisation of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping. Nucl Acids Res 1988; 16: 1305-1317.
    
    
32. Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA: Brief clinical report and review: Two patients with ring chromosome 15 syndrome. Am J Med Genet 1988; 29: 149-154.
    
    
33. Bloch DB, Bloch KD, Iannuzzi MC, Collins FS, Neer EJ, Seidman JG, Morton CC: The gene for the ail subunit of human guanine nucleotide binding protein maps near the cystic fibrosis locus. Am J Hum Genet 1988; 42:884-888.
    
    
34. Roth MS, Collins FS, Ginsburg D: Sizing of the human T cell receptor a locus and detection of a large deletion in the Molt-4 cell line. Blood 1988; 71:1744-1747.
    
    
35. Drumm ML, Smith CL, Dean M, Cole JL, Iannuzzi MC, Collins FS: Physical mapping of the cystic fibrosis region by pulsed field gel electrophoresis. Genomics 1988; 2:346-354.
    
    
36. Richards JE, Gilliam TC, Cole JL, Drumm ML, Wasmuth JJ, Gusella JF, Collins FS: Chromosome jumping from D4S10(G8) towards the Huntington disease gene. Proc Natl Acad Sci USA 1988; 85:6437-6441.
    
    
37. Marchuk DA, Collins FS: pYAC-RC, a yeast artificial chromosome vector for cloning DNA cut with infrequently cutting restriction endonucleases. Nucl Acids Res 1988: 16:7743.
    
    
38. Fountain JW, Lockwood WK, Collins FS: Transfection of primary human skin fibroblasts by electroporation. Gene 1988; 68: 167-172.
    
    
39. Iannuzzi MC, Weber JL, Yankaskas J, Boucher R, Collins FS: The introduction of biologically active foreign genes into human respiratory epithelial cells using electroporation. Am Rev Resp Dis 1988; 138:965-968.
    
    
40. Gumucio DL, Rood KL, Gray TA, Riordan MF, Sartor CI, Collins FS: Nuclear proteins that bind the human g-globin gene promoter: Alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin. Mol Cell Biol 1988; 8:5310-5322.
    
    
41. Fountain JW, Wallace MR, Brereton AM, O'Connell PO, White RL, Rich DC, Ledbetter DH, Leach RJ, Fournier REK, Menon AG, Gusella JF, Barker D, Stephens K, Collins FS: Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am J Hum Genet 1989; 44:58-67.
    
    
42. Diehl SR, Boehnke M, Erickson RP, Ploughman LM, Seiler KA, Lieberman JL, Clarke HB, Bruce MA, Schorry EK, Pericak-Vance MA, O'Connell PO, Collins FS: A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NFl) gene. Am J Hum Genet 1989; 44:33-37.
    
    
43. O'Connell PO, Leach RJ, Ledbetter DH, Cawthon RM, Culver M, Eldridge JR, Frej A-K, Holm T, Wolff E, Thayer MJ, Schafer AJ, Fountain JW, Wallace MR, Collins FS, Skolnick MH, Rich DC, Fournier REK, Baty BJ, Carey JC, Leppert MF, Lathrop GM, Lalouel J-M, White RL: Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type 1. Am J Hum Genet 1989; 44:51-57.
    
    
44. Stephens K, Green P, Riccardi VM, Ng S, Rising M, Barker D, Darby JK, Falls KM, Collins FS, Willard HF, Donis-Keller H: Genetic analysis of eight loci tightly linked to neurofibromatosis I. Am J Hum Genet 1989; 44: 13-19.
    
    
45. Wallace MR, Fountain JW, Brereton AM, Collins FS: Direct construction of a chromosome-specific NotI linking library from flow-sorted chromosomes. Nucl Acids Res 1989; 4: 1665-1677.
    
    
46. Iannuzzi MC, Dean M, Drumm ML, Hidaka N, Cole JL, Perry A, Stewart C, Gerrard B, Collins FS: Isolation of additional polymorphic clones from the cystic fibrosis region using chromosome jumping from D7S8. Am J Hum Genet 1989; 44:695-703.
    
    
47. Fountain JW, Wallace MR, Bruce MA, Seizinger BR, Menon A, Gusella JF, Michels VV, Schmidt MA, Dewald GW, Collins FS: Physical mapping of a translocation breakpoint in neurofibromatosis. Science 1989; 244: 1085-1087.
    
    
48. Boehnke M, Arnheim N, Li H, Collins FS: Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: Experimental design considerations. Am J Hum Genet 1989; 45:21-32.
    
    
49. Collins FS, O'Connell PO, Ponder BAJ, Seizinger BR: Progress towards identifying the neurofibromatosis (NFl) gene. Trends in Genetics 1989: 5:217-221.
    
    
50. Collins FS, Ponder BAJ, Seizinger BR, Epstein CJ: Editorial: The von Recklinghausen neurofibromatosis region on chromosome 17 - genetic and physical maps come into focus. Am J Hum Genet 1989; 44: 1-5.
    
    
51. Ledbetter DH, Ledbetter SA, vanTuinen P, Summers KM, Robinson TJ, Nakamura Y, Wolff R, White RL, Barker D, Wallace MR, Collins FS, Dobyns WB: Molecular dissection of a contiguous gene syndrome: Frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region. Proc Natl Acad Sci USA 1989; 86:5136-5140.
    
    
52. Rommens JM, Iannuzzi MC, Kerem B-S, 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 1989; 245:1059-1065.
    
    
53. Riordan JR, Rommens JM, Kerem B-S, Alon N, Rozmahel R, Grzelczak Z, Zielensky J, Lok S, Plavsic N, Chou J-L, Drumm ML, Iannuzzi MC, Collins FS, Tsui L-C: Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 1989; 245:1066-1073.
    
    
54. Cremers FPM, van de Pol DIR, Wieringa B, Collins FS, Sankila EM, Siu VM, FlintoffWF, Brunsmann F, Blonden LA, Ropers H-H: Chromosome jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. Proc Natl Acad Sci USA 1989; 86:7510-7514.
    
    
55. Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, van den Engh G, Collins FS, Nussbaum RL: Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet 1989; 45 530-540.
    
    
56. Fain PR, Goldgar DE, Wallace MR, Collins FS, Wright E, Nguyen K, Barker DF: Refined physical and genetic mapping of the NFl region on chromosome 17. Am J Hum Genet 1989; 45:721-728.
    
    
57. Nigro JM, Baker SJ, Preisinger AC, Jessup JM, Hostetter R, Cleary K, Bigner SH, Davidson N, Baylin S, Devilee P, Glover TW, Collins FS, Weston A, Modali R, Harris CC, Vogelstein B: Mutations in the p53 gene occur in diverse human tumour types. Nature 1989; 342:705-708.
    
    
58. Bucan M, Zimmer M, Whaley WL, Poustka A, Youngman S, Allitto BA, Ormondroyd E, Smith B, Pohl TM, MacDonald ME, Bates GP, Richards J, Volinia S, Gilliam TC, Sedlacek Z, Collins FS, Wasmuth JJ, Shaw DJ, Gusella JF, Frischauf A-M, Lehrach H: Physical maps of 4pl6.3, the area expected to contain the Huntington disease mutation. Genomics 1990; 6: 1-15.
    
    
59. Gumucio DL, Lockwood WK, Weber JL, Saulino AM, Delgrosso K, Surrey S, Schwartz E, Goodman M, Collins FS: The -175 T ? C mutation increases promoter strength in erythroid cells: Correlation with evolutionary conservation of binding sites for two trans-acting factors. Blood 1990; 75:756-761.
    
    
60. Lemna WK, Feldman GL, Kerem B-S, Fernbach SD, Zevkovich EP, O'Brien WE, Collins FS, Tsui L-C, Beaudet AL: Mutation analysis for heteroygote detection and prenatal diagnosis of cystic fibrosis. N Engl J Med 1990; 322:291-296.
    
    
61. Merry DE, Lesko JG, Siu V, FlintoffWF, Collins FS, Lewis RA, Nussbaum RL: DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X;13 translocation. Genomics 1990; 6:609-615.
    
    
62. Patel PI, Ledbetter DH, Frances S, Franco B, Wallace MR, Collins FS, Lupski JR: Isolation of a polymorphic DNA sequence (LL101) from the short arm region of chromosome 17 [D17S251]. Nucl Acids Res 1990; 18: 1087.
    
    
63. Donlon TA, Krensky AM, Wallace MR, Collins FS, Clayberger C: Localization of a human T cell specific gene, RANTES (D17S136E), to chromosome 17ql1.2-ql2. Genomics 1990; 6:548-553.
    
    
64. Dean M, Drumm ML, Stewart C, Gerrard B, Perry A, Hidaka N, Cole JL, Collins FS, Iannuzzi MC: Approaches to localizing disease genes as applied to cystic fibrosis. Nucl Acids Res 1990; 18:345-350.
    
    
65. Ledbetter SA, Wallace MR, Collins FS, Ledbetter DH: Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17pl3.3. Genomics 1990; 7:264-269.
    
    
66. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton AM, Nicholson JW, Mitchell AL, Collins FS: The type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NFl patients. Science 1990; 249:181-186.
    
    
67. Lux SE, Tse WT, Meninger JC, John KM, Harris P, Shalev O, Chilcote RR, Marchesi SL, Watkins PC, Bennett V, McIntosh S, Collins FS, Francke U, Ward DC, Forget BG: Hereditary spherocytosis associated with deletion of the human erythrocyte ankyrin gene on chromosome 8. Nature 1990; 345:736-739.
    
    
68. Walker AP, Collins FS, Siddique T, Yamaoka LH, Herbstreith MH, Pericak-Vance MA, Secore SL, Hung W-Y, Goate AM, Hardy JA, Patterson D, Roses AD, Bartlett RJ: D21S194, a jump clone from D21S16. Nucl Acids Res 1990; 18: 1931.
    
    
69. O'Connell PO, Viskochil D, Buchberg AM, Fountain JW, Cawthon RM, Culver M, Stevens J, Rich Ledbetter DH, Wallace MR, Carey JC, Jenkins NA, Copeland NG, Collins FS, White RL: The human homologue of murine evi-2 lies between two von Recklinghausen neurofibromatosis translocations. Genomics 1990; 7:547-554.
    
    
70. Gray TA, Gumucio DL, Collins FS: A two-dimensional system for DNA binding proteins. Technique 1990; 2:147-154.
    
    
71. Drumm ML, Pope HA, Cliff WH, Rommens JM, Marvin SA, Tsui L-C, Collins FS, Frizell RA, Wilson JM: Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell 1990; 82: 1227-1233.
    
    
72. Rabbitts P, Bergh J, Douglas J, Collins FS, Waters J: A submicroscopic homozygous deletion at the D3S3 locus in a cell line isolated from a small cell lung carcinoma. Genes, Chromosomes & Cancer 1990; 2:231-238.
    
    
73. Dean M, Amos JA, Lynch J, Romeo G, Devoto M, Ward K, Halley D, Oostra B, Ferrari M, Weir BS, Finn PB, Collins FS, Iannuzzi MC: Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8. Human Genetics 1990; 85:275-278.
    
    
74. Beaudet AL, Kazazian HH, Bowman JE, Chakravarti A, Collins FS, Davis JG, Davis PB, Desnick RJ, Elias S, Fost N, Holtzman NA, Kaback M, Klinger K, Reilly PR, Rosenstein B, Rowley PT, Short EM, Smith ACM, Sorenson JR, Tsui L-C, Williamson R, Lamontagne N: Statement from the NIH Workshop on population screening for the cystic fibrosis gene. N Engl J Med 1990; 323:70-71.
    
    
75. Ballester R, Marchuk DA, Boguski M, Saulino AM, Letcher R, Wigler M, Collins FS: The NFl locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 1990; 63:851-859.
    
    
76. Kerem B-S, Zielenski J, Markiewicz D, Bozon D, Gazit E, Rommens JM, Kennedy D, Riordan JR, Collins FS, Tsui L-C: Identification of mutations in regions corresponding to the 2 putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 1990; 87:8447-8451.
    
    
77. Weber JL, Kwitek AE, May PE, Wallace MR, Collins FS, Ledbetter DH: Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci. Nucl Acids Res 1990; 18:4640.
    
    
78. Wallace MR, Andersen LB, Fountain JW, Odeh HM, Viskochil D, Marchuk DA, O'Connell PO, White RL, Collins FS: A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region. Genes, Chromosomes & Cancer 1990: 2:271-277.
    
    
79. Upadhyaya M, Cheryson A, Broadhead W, Fryer A, Shaw DJ, Huson S, Wallace MR, Andersen LB, Marchuk DA, Viskochil D, Black D, O'Connell PO, Collins FS, Harper PS: A 90 kb DNA deletion associated with neurofibromatosis type 1 (NFl). J Med Genet 1990; 27:738-741.
    
    
80. Andersen LB, Wallace MR, Marchuk DA, Cawthon RM, Odeh HM, Letcher R, White RL, Collins FS: A polymorphic cDNA probe on chromosome 17q11.2 located within the NFl gene [D17S376]. Nucl Acids Res 1990; 1: 197.
    
    
81. Iannuzzi MC, Stern RC, Collins FS, Tom Hon C, Hidaka N, Strong TV, Becker LS, Drumm ML, White MB, Gerrard B, Dean M: Two frame shift mutations in the cystic fibrosis gene. Am J Hum Genet 1991; 48:227-231.
    
    
82. Cawthon RM, Andersen LB, Buchberg AM, Xu G, O'Connell PO, Viskochil D, Weiss RB, Wallace MR, Marchuk DA, Culver M, Stevens Jenkins NA, Copeland NG, Collins FS, White RL: cDNA sequence and genomic structure of EVI2B, a gene lying within an intron of the neurofibromatosis type 1 gene. Genomics 1991; 9:446-460.
    
    
83. Iannuzzi MC, Hidaka N, Boehnke ML, Bruck ME, Hanna WT, Collins FS, Ginsburg DL: Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (Ile865 to Thr). Am J Hum Genet 1991; 48:757-763.
    
    
84. Allitto BA, MacDonald ME, Bucan M, Richards J, Romano D, Whaley WL, Falcone B, Ianazzi J, Wexler NS, Wasmuth JJ, Collins FS, Lehrach H, Haines JL, Gusella JF: Increased recombination adjacent to the Huntington's disease-linked D4S10 marker. Genomics 1991; 9:104-112.
    
    
85. Marchuk DA, Drumm ML, Saulino AM, Collins FS: Construction of T-vectors, a rapid and efficient system for cloning PCR products. Nucl Acids Res 1991; 19:1154.
    
    
86. Andersen LB, Wallace MR, Marchuk DA, Tavakkol R, Mitchell AL, Saulino AM, Collins FS: A highly polymorphic cDNA probe in the NFl gene. Nucl Acids Res 1991; 19:3754.
    
    
87. Kainulainen K, Steinmann B, Collins FS, Dietz HC, Francomano CA, Child A, Kilpatrick MW, Brock DJH, Keston M, Pyeritz RE, Peltonen L: Marfan Syndrome: No evidence for heterogeneity in different populations, and more precise mapping of the gene. Am J Hum Genet 1991; 49:662-667.
    
    
88. Gibson AL, Wagner LM, Collins FS, Oxender DL: LIV-1: A bacterial model system for investigating transport effects of cystic fibrosis-associated mutations. Science 1991; 254:109-111.
    
    
89. Shukla H, Gillespie GA, Srivastava R, Collins FS, Chorney MJ: A class I jumping clone places the HLA-G gene approximately 100 kilobases from HLA-H within the HLA-A subregion of the human MHC. Genomics 1991; 10:905-914.
    
    
90. Gumucio DL, Rood KL, Blanchard-McQuate KL, Gray TA, Saulino AM, Collins FS: Interaction of Spl with the human -globin promoter: Binding and transactivation of normal and mutant promoters. Blood 1991; 78: 1853-1863.
    
    
91. Wallace MR, Andersen LB, Saulino AM, Brereton AM, Gregory PE, Glover TW, Collins FS: A de novo Alu insertion results in neurofibromatosis type 1. Nature 1991; 353:864-866.
    
    
92. Gutmann DH, Wood DL, Collins FS: Identification of the neurofibromatosis type 1 gene product. Proc Natl Acad Sci USA 1991; 88:9658-9662.
    
    
93. Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutmann DH, Boguski M, Collins FS: cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NFl gene product. Genomics 1991; 11:931-940.
    
    
94. Goldberg NS, Collins FS: The hunt for the neurofibromatosis gene. Arch Dermatol 1991; 127: 1705-1707.
    
    
95. Strong TV, Smit LS, Turpin SV, Cole JL, Tom-Hon C, Markiewicz D, Petty TL, Craig MW, Rosenow EC, Tsui L-C, Iannuzzi MC, Knowles MR, Collins FS: Identification of a missense mutation in the cystic fibrosis gene in two sisters with mild disease and normal sweat electrolyte levels. N Engl J Med 1991; 325:1630-1634.
    
    
96. Drumm ML, WiLkinson DJ, Smit LS, Worrell RT, Frizzell RA, Dawson DC, Collins FS: Cl conductance expressed by DF508 and other mutant CFTRs can be activated to near wild type levels in Xenopus oocytes. Science 1991; 254:1797-1799.
    
    
97. Ton CCT, Hirvonen H, Miwa H, Weil MM, Monaghan P, Van Heyningen V, Hastie ND, Collins FS, Swaroop A, Strong LC, Saunders GF: Positional cloning and characterization of a paired box and homeobox-containing gene from the aniridia region. Cell 1991; 67:1059-1074.
    
    
98. Collins FS: Medical and ethical consequences of the Human Genome Project. J Clinical Ethics 1991; 2:261-267.
    
    
99. Biesecker L, Bowles-Biesecker B, Collins FS, Kaback M, Wilfond B: General population screening for cystic fibrosis is premature. Am J Hum Genet 1992; 50:438-439.
    
    
100. Krauss RD, Bubien JK, Drumm ML, Zhen T, Peiper SC, Collins FS, Kirk KL, Frizzell RA, Rado TA: Transfection of wild-type CFTR into cystic fibrosis lymphocytes restores chloride conductance at G1 of the cell cycle. EMBO J 1992; 11:875-883.
     
     
101. Gusella JF, Altherr MR, McClatchey AI, Doucette-Stamm LA, Tagle DA, Plummer S, Groot N, Collins FS, Housman DE, Lehrach H, MacDonald ME, Bates GP, Wasmuth JJ: Sequence tagged sites (STSs) spanning 4pl6.3 and the Huntington's disease candidate region. Genomics 1992; 13:75-81.
     
     
102. Collins FS: Positional cloning: Let's not call it reverse anymore. Nat Genet 1992; 1:3-6.
     
     
103. Basu TN, Gutmann DH, Fletcher JA, Glover TW, Collins FS, Downward J: Aberrant regulation of ras proteins in tumor cells from type 1 neurofibromatosis patients. Nature 1992; 356:713-715.
     
     
104. MacDonald ME, Novelletto A, Lin C, Tagle DA, Barnes G, Bates G, Taylor S, Allitto B, Altherr MR, Myers R, Lehrach H, Collins FS, Wasmuth JJ, Frontali M, Gusella JF: The Huntington's disease candidate region exhibits many different haplotypes. Nat Genet 1992; 1 :99-103.
     
     
105. Collins FS: Cystic fibrosis: molecular biology and therapeutic implications. Science 1992; 256:774-779.
     
     
106. Bates GP, Valdes J, Hummerich H, Baxendale S, Le Paslier DL, Monaco TP, MacDonald ME, Altherr MR, Ross M, Wasmuth JJ, Gusella JF, Cohen D, Collins FS, Lehrach H: Characterization of a YAC contig spanning the Huntington's disease gene candidate region. Nat Genet 1992; 1:180-187.
     
     
107. Tagle DA, Collins FS: An optimized Alu-PCR primer pair for human-specific amplifications of YAC and somatic cell hybrids. Hum Molec Genet 1992; 1:121-122.
     
     
108. Gutmann DH, Collins FS: Recent progress towards understanding the molecular biology of von Recklinghausen neurofibromatosis. Ann Neurol 1992; 31:555-561.
     
     
109. Marchuk DA, Tavakkol R, Wallace MR, Brownstein BH, Taillon-Miller P, Fong C-T, Legius E, Andersen LB, Glover TW, Collins FS: A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. Genomics 1992; 13 :672-681.
     
     
110. Tagle DA, Blanchard-McQuate KL, Collins FS: Dinucleotide repeat polymorphism in the Huntington's disease region at the D4843 locus. Hum Molec Genet 1992; 1:215.
     
     
111. Legius E, Marchuk DA, Hall BK, Andersen LB, Wallace MR, Collins FS, Glover TW: NFI related locus on chromosome 15. Genomics 1992; 13:1316-1318.
     
     
112. Snell RG, Thompson LM, Tagle DA, Holloway TL, Barnes G, Harley HG, Sandkuijl LA, MacDonald ME, Collins FS, Gusella JF, Harper PS, Shaw DJ: A recombination event that redefines the Huntington disease region. Am J Hum Genet 1992; 51:357-362.
     
     
113. McCombie WR, Martin-Gallardo A, Gocayne JD, FitzGerald M, Dubnick M, Kelley JM, Castilla L, Sui L-I, Wallace S, Trapp S, Tagle DA, Whaley WL, Cheng S, Gusella JF, Frischauf A-M, Poustka A, Lehrach H, Collins FS, Kerlavage AR, Fields C, Venter JC: Expressed genes, Alu repeats, and polymorphisms in cosmids sequenced from 4pl6.3. Nat Genet 1992; 1:348-354.
     
     
114. Gumucio DL, Heilstedt-Williamson H, Gray TA, Tarle SA, Shelton DA, Tagle DA, Slightom JL, Goodman M, Collins FS: Phylogenetic footprinting reveals a nuclear protein which binds to silencer sequences in the human g and e globin genes. Molec Cell Biol 1992; 12:4919-4929.
     
     
115. Kayes LM, Schroeder WT, Marchuk DA, Collins FS, Riccardi VM, Duvic M, Stephens K: The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene. Genomics 1992; 14:369-376.
     
     
116. Kamei T, Fukushima Y, Shibata A, Hayashi Y, Tachibana N, Takeda I, Niikawa N, Collins FS, Takahashi K, Masumura S: DNA deletion in patients with von Recklinghausen neurofibromatosis. Clin Genetics 1992; 42:53-54.
     
     
117. Andersen LB, Ballester R, Marchuk DA, Chang E, Gutmann DH, Saulino AM, Camonis J, Wigler M, Collins FS: A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both with GAP activity. Molec Cell Biol 1993; 13:487-495.
     
     
118. Andersen LB, Fountain JW, Gutmann DH, Tarle SA, Glover TW, Dracopoli NC, Housman DE, Collins FS: Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines. Nat Genet 1993; 3:118-121.
     
     
119. Legius E, Marchuk DA, Collins FS, Glover TW: Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 1993; 3:122-126.
     
     
120. Gutmann DH, Boguski M, Marchuk DA, Wigler M, Collins FS, Ballester R: Analysis of the neurofibromatosis type 1 (NFl) GAP-related domain by site-directed mutagenesis. Oncogene 1993; 8:761-769.
     
     
121. Strong TV, Smit LS, Nasr SZ, Wood DL, Cole JL, Iannuzzi MC, Stern R, Collins FS: Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Mutation 1993; 1: 380-387.
     
     
122. Martin-Gallardo A, Marchuk DA, Kerlavage AR, Venter JG, Collins FS, Wallace MR: Sequencing and analysis of genomic fragments from the NF1 locus. DNA Sequence 1993; 3:237-243.
     
     
123. Strong TV, Wilkinson DJ, Mansoura MK, Devor DC, Henze K, Yang Y, Wilson JM, Cohn JA, Dawson DC, Frizzell RA, Collins FS: Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance. Hum Molec Genet 1993; 2:225-230.
     
     
124. 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 1993; 72:971-983.
     
     
125. Gutmann DH, Collins FS: The neurofibromatosis type I gene and its protein product, neurofibromin. Neuron 1993; 10:335-343.
     
     
126. Chandrasekharappa SC, Gross LA, King SE, Collins FS: The human NME2 gene lies within 18 kb of NME1 on chromosome 17. Genes, Chromosomes and Cancer 1993; 6:245-248.
     
     
127. Biesecker BB, Boehnke M, Calzone K, Markel DS, Garber JE, Collins FS, Weber BL: Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. J Am Med Assoc 1993; 269:1970-1974.
     
     
128. Chamberlain JS, Boehnke M, Frank TS, Kiousis S, Xu J, Guo S-W, Hauser ER, Norum RA, Helmbold EA, Markel D, Keshavarzi SM, Jackson CE, Calzone K, Garber J, Collins FS, Weber BL: Further narrowing of the BRCA1 region on chromosome 17ql2-21 by genetic analysis. Am J Hum Genet 1993; 54:792-798.
     
     
129. Tagle DA, Blanchard-McQuate KL, Valdes J, Castilla L, MacDonald ME, Gusella JF, Collins FS: Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus. Hum Molec Genet 1993; 2:489.
     
     
130. Smit LS, Nasr SZ, Iannuzi MC, Collins FS: An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels. Human Mutation 1993: 2:148-151.
     
     
131. Valdes JM, Tagle DA, Elmer LW, Collins FS: A simple non-radioactive method for diagnosis of Huntington's Disease. Hum Molec Genet 1993; 2:633-634.
     
     
132. Gutmann DH, Andersen LB, Cole JL, Swaroop M, Collins FS: An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NFl) gene is expressed in muscle. Hum Molec Genet 1993; 2:989-992.
     
     
133. Gregory PE, Gutmann DH, Mitchell AL, Park S, Boguski M, Jacks T, Wood DL, Jove R, Collins FS: The neurofibromatosis type 1 gene product [neurofibromin] associates with microtubules. Som Cell & Molec Genet 1993; 19:265-274.
     
     
134. Tagle DA, Blanchard-McQuate KL, Valdes J, Castilla L, Collins FS: Dinucleotide repeat polymorphisms at the D4S126 and D4S114 loci. Hum Molec Genet 1993; 2:1077.
     
     
135. Andersen LB, Tarle SA, Marchuk DA, Legius E, Collins FS: A highly informative compound nucleotide repeat in the neurofibromatosis (NF1) gene. Hum Molec Genet 1993; 2:1083.
     
     
136. Liu P, Claxton DF, Marlton P, Hajra A, Siciliano J, Freedman M, Chandrasekharappa SC, Yanagisawa K, Stallings RL, Collins FS, Siciliano MJ: Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia. Blood 1993; 82:716-722.
     
     
137. Koh J, Sferra TJ, Collins FS: Characterization of the CFTR promoter region: chromatin context and tissue-specificity. J Biol Chem 1993: 268:15912-15921.
     
     
138. Yang Y, Devor DC, Engelhardt JF, Ernst SA, Strong TV, Collins FS, Cohn JA, Frizzell RA, Wilson JM: Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR. Hum Molec Genet 1993; 2:1253-1261.
     
     
139. Liu P, Tarle SA, Hajra A, Claxton DF, Marlton P, Freedman M, Siciliano MJ, Collins FS: Fusion between transcription factor CBFb and a myosin heavy chain in acute myeloid leukemia. Science 1993; 261: 1041-1044.
     
     
140. Gutmann DH, Tennekoon GI, Cole JL, Collins FS, Rutkowski JL: Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation. J Neuroscience Res 1993; 36:216-223.
     
     
141. Flejter WL, Barcroft CL, Guo S-W, Lynch ED, Boehnke M, Chandrasekharappa SC, Collins FS, Weber BL, Glover TW: Multicolor FISH mapping with Alu-PCR amplified YAC clone DNA determines the order of markers in the BRCA1 region on chromosome 17ql2-q21. Genomics 1993; 17:624-631.
     
     
142. Deng Z, Liu P, Marlton P, Claxton DF, Lane S, Callen DF, Collins FS, Siciliano MJ: Smooth muscle myosin heavy chain locus (MYH11) maps to 16pl3.13-pl3.12 and establishes a new region of conserved synteny between human 16p and mouse 16. Genomics 1993; 18:156-159.
     
     
143. Colman SD, Collins FS, Wallace MR: Characterization of a single base-pair deletion in neurofibromatosis type 1. Hum Molec Genet 1993; 2:1709-1711.
     
     
144. Abel KJ, Boehnke M, Prahalad M, Ho P, Flejter WL, Watkins M, VanderStoep J, Chandrasekharappa SC, Collins FS, Glover TW, Weber BL: A radiation hybrid map of the BRCA1 region of chromosome 17ql2-q21. Genomics 1993; 17:632-666.
     
     
145. Strong TV, Tagle DA, Valdes J, Boehm K, Swaroop M, Kaatz KW, Collins FS, Albin RL: Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues. Nat Genet 1993; 5:259-268.
     
     
146. Gutmann DH, Collins FS: Neurofibromatosis type 1: Beyond positional cloning. Archives of Neurology 1993; 50: 1185-1193.
     
     
147. Flejter WL, Watkins M, Abel KJ, Chandrasekharappa SC, Weber BL, Collins FS, Glover TW: Isolation and characterization of somatic cell hybrids with breakpoints spanning 17q22-q24. Cytogenet Cell Genet 1993; 64:222-223.
     
     
148. Guyer MS, Collins FS: The Human Genome Project and the future of medicine. Am J Dis Child 1993; 147: 1145-1152.
     
     
149. Gutmann DH, Tennekoon GI, Cole JL, Collins FS, Rutkowski JL: Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during in vitro myoblast differentiation. J Neuro Res 1993; 36:216-223.
     
     
150. Chandrasekharappa SC, King SE, Freedman ML, Hayes ST, Collins FS: The CA repeat marker D17S91 is located within 40 kb of the WNT3 gene on chromosome 17q. Genomics 1993; 18:728-729.
     
     
151. Strong TV, Boehm K, Collins FS: Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization. J Clin Invest 1993; 193:347-354.
     
     
152. Cohn JA, Strong TV, Picciotto MR, Nairn AC, Collins FS, Fitz JG: Localization of the cystic fibrosis transmembrane conductance regulator in human bile duct epithelial cells. Gastroenterology 1993; 105:1857-1864.
     
     
153. Smit LA, Wilkinson DJ, Mansoura MK, Collins FS, Dawson DC: Functional roles of the nucleotide binding folds in the activation of the cystic fibrosis transmembrane conductance regulator. Proc Natl Acad Sci USA 1993; 90:9963-9967.
     
     
154. McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL, Jackson CE, Iannuzzi M, Collins FS, Boehnke M, Porteous ME, Guttmacher AE, Marchuk DA: A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet 1994; 6:197-204.
     
     
155. Horiuchi T, Hatta N, Matsumoto M, Ohtsuka H, Collins FS, Kobayashi Y, Fujita S: Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese. Hum Genet 1994; 93:81-83.
     
     
156. National Advisory Council of the National Center for Human Genome Research: Statement on use of DNA testing for presymptomatic identification of cancer risk. JAMA 1994; 271 785-786.
     
     
157. Claxton DR, Liu P, Hsu HB, Marlton P, Hester J, Collins FS, Deisseroth AB, Rowley J, Siciliano MJ: Detection of fusion transcripts generated by the inversion 16 chromosome in acute myelogenous leukemia. Blood 1994; 84:1750-1756.
     
     
158. Gutmann DH, Cole JL, Stone WJ, Ponder BAJ, Collins FS: Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type 1. Genes, Chromosomes & Cancer 1994; 10:55-58.
     
     
159. Legius E, Hall BK, Wallace MR, Collins FS, Glover TW: Ten base pair duplication in exon 38 of the NFl gene. Hum Molec Genet 1994; 3:829-830.
     
     
160. Chandrasekharappa SC, Friedman L, King SE, Lee Y-H, Welsch P, Bowcock AM, Weber BL, King M-C, Collins FS: The gene for pancreatic polypeptide (PPY) and the anonymous marker D17S78 are within 45 kb of each other on chromosome 17q21. Genomics 1994; 21:458-460.
     
     
161. Nakamura T, Nemoto T, Arai M, Yamazaki Y, Kasuga T, Gutmann DH, Collins FS, Ishikawa T: Specific expression of the neurofibromatosis type 1 gene (NF1) in the hamster schwann cell. Am J Pathology 1994; 144:549-555.
     
     
162. Couch FJ, Abel KJ, Brody LC, Boehnke M, Collins FS, Weber BL: Localization of the gene for ATP citrate lyase (ACLY) distal to gastrin (GAS) and proximal to D17S856 on chromosome 17q12-q21. Genomics 1994; 21:444-446.
     
     
163. Hajra A, Martin-Gallardo A, Tarle SA, Freedman M, Wilson-Gunn S, Bernards A, Collins FS: DNA sequences in the promoter region of the NFl gene are highly conserved between human and mouse. Genomics 1994; 21:649-652.
     
     
164. Valdes JM, Tagle DA, Collins FS: Island rescue PCR: A novel method for isolating transcribed sequences from YACs and cosmids. Proc Natl Acad Sci USA 1994; 91:5377-5381.
     
     
165. Sartin EA, Doran SE, Riddell MG, Herrera GA, Tennyson GS, D'Andrea G, Whitley RD, Collins FS: Characterization of naturally occurring cutaneous neurofibromatosis in Holstein cattle: a disorder resembling neurofibromatosis type 1 in man. Am J Pathol 1994; 145:1168-1174.
     
     
166. Nasr SZ, Strong TV, Collins FS: Identification of a CFTR frameshift mutation (1013 delAA) in trans to DF508 in a pancreatic sufficient cystic fibrosis patient. Hum Molec Genet 1994; 3:2063-2064.
     
     
167. Rotman G, Vanagaite L, Collins FS, Shiloh Y: Three dinucleotide repeat polymorphisms at the ataxia-telangiectasia locus. Hum Molec Genet 1994; 3:2079.
     
     
168. Rotman G, Savitsky K, Ziv Y, Cole CG, Higgins MJ, Bar-AM I, Dunham I, Bar-Shira A, Vanagaite L, Nowak NJ, Chandrasekharappa SC, Lehrach H, Avivi L, Shows TB, Collins FS, Bentley DR, Shiloh Y: A YAC contig spanning the ataxia-telangiectasia locus (groups A and C) at 11q22-23. Hum Molec Genet 1994; 24:234-242.
     
     
169. Couch FJ, Kiousis S, Castilla LH, Xu J, Chamberlain JS, Collins FS, Weber BL: Characterization of ten new polymorphic dinucleotide repeats and generation of a high-density microsatellite based physical map of the BRCA1 region of chromosome 17q21. Genomics 1994; 24:419-424.
     
     
170. Castilla LH, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, Boyd J, Lubin MB, Deshano ML, Brody LC, Collins FS, Weber BL: Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet 1994; 8:387-391.
     
     
171. Weber BL, Abel JK, Brody LL, Flejter WL, Chandrasekharappa SC, Couch FJ, Merajver SC, Collins FS: Familial breast cancer: Approaching the isolation of a susceptibility gene. Cancer 1994; 74:1013-1020.
     
     
172. Vanagaite L. Savitsky K, Rotman G, Ziv Y, Gerken SC, White R, Weissenbach J, Benham FJ, Collins FS, Shiloh Y: Physical localization of microsatellite markers at the ataxia-telangiectasia locus at 11q22-23. Genomics 1994; 22:231-233.
     
     
173. Gumucio DL, Shelton DA, Blanchard-McQuate K, Gray T, Tarle S, Heilstedt-Williamson H, Slightom JL, Collins FS, Goodman M: Differential phylogenetic footprinting as a means to identify base changes responsible for recruitment of the anthropoid g gene to a fetal expression pattern. J Biol Chem 1994; 269:15371-15380.
     
     
174. Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin GY, Ho PP, Merajver S, Chandrasekharappa SC, Xu J, Cole JL, Struewing JP, Valdes JM, Collins FS, Weber BL: Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. Genomics 1995; 25:238- 247.
     
     
175. Marlton P, Claxton DF, Liu P, Estey EH, Cork AN, Beran M, Testa JR, Collins FS, Rowley J, Siciliano MJ: Molecular characterization of 16p deletions associated with inversion 16 defines the critical fusion for leukemogenesis. Blood 1995; 85:772-779.
     
     
176. Smit LS, Strong TV, Wilkinson DJ, Macek M, Mansoura MK, Wood DL, Cole JL, Cutting GR, Cohn JA, Dawson DC, Collins FS: Missense mutation (G480C) in the CFTR gene associated with protein mislocation but normal chloride channel activity. Hum Molec Genet 1995; 4:269-273.
     
     
177. Hajra A, Liu PP, Wang Q, Kelley CA, Stacy T, Adelstein RS, Speck NA, Collins FS: The leukemic core binding factor b-smooth muscle myosin heavy chain (CBFb-SMMHC) chimeric protein requires both CBFb and myosin heavy chain domains for transformation of NIH 3T3 cells. Proc Natl Acad Sci USA 1995; 92:1926-1930. This paper has been retracted; see Proc Natl Acad Sci USA 1996, 93:15523.
     
     
178. Collins FS: Positional cloning moves from perditional to traditional. Nat Genet 1995; 9:347-350.
     
     
179. Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Johnston C, Collins FS, Weber BL, Frank TS: Somatic mutations in the BRCA1 gene in sporadic ovarian tumors. Nat Genet 1995; 9:439- 443.
     
     
180. Wijmenga C, Speck NA, Dracopoli NC, Hofker MH, Liu P, Collins FS: Identification of a new murine runt domain-containing gene, Cbfa3, and localization of the human homolog, CBFA3, to chromosome 1p35-pter. Genomics 1995; 26:611-614.
     
     
181. Hajra A, Collins FS: Structure of the leukemia-associated human CBFB gene. Genomics 1995; 26:571-579. This paper has been retracted; see Genomics 1996; 38:107.
     
     
182. Merajver SD, Frank TS, Xu J, Pham TM, Calzone KA, Bennett-Baker P, Chamberlain J, Boyd J, Garber JE, Collins FS, Weber BL: Germline BRCA1 mutations and loss of the wild-type allele in tumors from families with early onset breast and ovarian cancer. Clin Cancer Res. 1995; 1:539- 544.
     
     
183. Couch FJ, Garber J, Kiousis S, Calzone K, Hauser ER, Merajver SD, Frank TS, Boehnke M, Chamberlain JS, Collins FS, Weber BL: Genetic analysis of eight breast/ovarian cancer families with suspected BRCA1 mutations. J Natl Canc Inst 1995; 17:9-14.
     
     
184. Liu P, Siedel N, Bodine D, Speck N, Tarle S, Collins FS: Acute myelocytic leukemia with inv(16) produces a chimeric transcription factor with a myosin heavy chain tail. Cold Spring Harbor Symp Quant Biol. 1995; 59:547-553.
     
     
185. Weber BL, Abel KJ, Couch FJ, Merajver SD, Chandrasekharappa SC, Castilla L, McKinley D, Ho PP, Calzone K, Thomas FS, Xu J, Brody LC, Collins FS: Progress toward isolation of a breast cancer susceptibility gene: BRCA1. Cold Spring Harbor Symp Quant Biol. 1995; 59:531-536.
     
     
186. Vanagaite L, James MR, Rotman G, Savitsky K, Bar-Shira A, Gilad S, Ziv Y, Uchenik V, Sartiel A, Collins FS, Sheffield VC, Richard CW, Weissenbach J, Shiloh Y: A high-density microsatellite map of the ataxia-telangiectasia locus. Human Genetics 1995; 95:451-454.
     
     
187. Shurtleff SA, Meyers S, Hiebert SW, Raimondi SC, Head DR, Willman CL, Wolman S, Slovak ML, Carroll AJ, Behm F, Hulshof MG, Motroni TA, Okuda T, Liu P, Collins FS, Downing JR: Heterogeneity of CBFb/MYH11 fusion messages encoded by the inv(16)(p13q22) and the t(16;16)(p13;q22) in acute myelogenous leukemia. Blood 1995; 85:3695-3703.
     
     
188. Struewing JP, Brody LC, Erdos MR, Kase RG, Giambarresi TA, Smith S, Ponder BAJ, Collins FS, Tucker MA: Detection of eight BRCA1 mutations in ten breast/ovarian cancer families, including one family with male breast cancer. Am J Hum Genet 1995; 57:1-7.
     
     
189. Liu PP, Hajra A, Wijmenga C, Collins FS: Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia. Blood 1995; 85:2289-2302. One paragraph in this extensive review has been withdrawn; see Blood 1997; 89:1842.
     
     
190. 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 1995; 268:1749-1753.
     
     
191. Russell MW, Macdonald D, Campbell RM, Hulse JE, Munroe DJ, Bric E, Housman DE, Collins FS, Brody LC: Localization of Romano-Ward long QT syndrome (RWLQTS) gene, LQT1, to the interval between tyrosine hydroxylase (TH) and D11S1349. Am J Hum Genet 1995; 57:503-509.
     
     
192. Asamoah A, North K, Wagstaff J, Doran S, Ogle R, Collins FS, Korf BR: A 17q inversion involving the NF1 locus in a family with neurofibromatosis type I. Am J Med Genet 1995; 60:312-316.
     
     
193. Trent JM, Weber B, Guan XY, Zhang J, Collins FS, Abel K, Diamond A, Meltzer P: Microdissection and microcloning of chromosomal alterations in human breast cancer. Breast Cancer Res Treat 1995;33:95-102.
     
     
194. Hajra A, Liu PP, Speck NA, Collins FS: Overexpression of CBFa reverses cellular transformation by the CBFb-SMMHC chimeric oncoprotein. Molec Cell Biol 1995; 15:4980- 4989. This paper has been retracted; see Molec Cell Biol 1996; 16:7185.
     
     
195. Weber BL, Abel KJ, Couch FJ, Merajver S, Castilla L, Brody LL, Collins FS: Transcript identification in the BRCA1 candidate region. Breast Cancer Res Treat 1995; 33:115-124.
     
     
196. Rotman G, Vanagaite L, Collins FS, Shiloh Y: Rapid identification of polymorphic CA-repeats in YAC clones. Mol Biotechnol 1995; 3:85-92.
     
     
197. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, Brody LC: The carrier frequency of the BRCA1 185delAG mutation is approximately 1% in Ashkenazi Jewish individuals. Nat Genet 1995; 11:198-200.
     
     
198. Hudson KL, Rothenberg KH, Andrews LB, Kahn MJE, Collins FS: Genetic discrimination and health insurance: An urgent need for reform. Science 1995; 270:391-393.
     
     
199. Guyer MS, Collins FS: How is the Human Genome Project doing, and what have we learned so far? Proc Natl Acad Sci USA 1995; 92:10841-10848.
     
     
200. Collins FS: Ahead of schedule and under budget: The Genome Project passes its fifth birthday. Proc Natl Acad Sci USA 1995; 92:10821-10823.
     
     
201. Savitsky K, Sfez S, Tagle DA, Ziv Y, Sartiel A, Collins FS, Shiloh Y, Rotman G: The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Molec Genet 1995; 11:2025-2032.
     
     
202. Smith JR, Carpten JD, Brownstein MJ, Ghosh S, Magnuson VL, Gilbert DA, Trent JM, Collins FS: Approach to genotyping errors caused by nontemplated nucleotide addition by Taq DNA polymerase. Genome Res 1995; 5:312-317.
     
     
203. Ho PP, Couch FJ, Brody LC, Abel KJ, Boehnke M, Shearon TH, Chandrasekharappa SC, Collins FS: Localization of the human homolog of the yeast cell division control 27 gene (CDC27) proximal to ITGB3 on human chromosome 17q21.3. Somatic Cell Molec Genet 1995; 21:351-355.
     
     
204. Morrow DM, Tagle DA, Shiloh J, Collins FS, Hieter P: TEL1, a Saccharomyces cerevisiae homologue of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1. Cell 1995; 82:831-840.
     
     
205. Collins FS: BRCA1 - Lots of mutations, lots of dilemmas. N Engl J Med 1996; 334:186-188.
     
     
206. Bennett-Baker PE, Kiousis S, Chandrasekharappa SC, King SE, Abel KJ, Collins FS, Weber BL, Chamberlain JS: Isolation of tetranucleotide repeat polymorphisms flanking the BRCA1 gene. Genomics 1996; 32:163-167.
     
     
207. Nasr SZ, Strong TV, Mansoura MK, Dawson DC, Collins FS: A novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. Hum Mutation 1996; 7:151-154.
     
     
208. Rosenfeld MA, Collins FS: Gene therapy for cystic fibrosis. Chest 1996; 109:241-252.
     
     
209. Wijmenga C, Gregory PE, Hajra A, Schrock E, Ried T, Eils R, Liu P, Collins FS: The CBFb- SMMHC chimeric protein involved in acute myeloid leukemia forms novel nuclear rod-like structures in transformed NIH 3T3 cells. Proc Natl Acad Sci USA 1996; 93:1630-1635. This paper has been partially retracted; see Proc Natl Acad Sci USA 1996; 93:15522.
     
     
210. Liu PP, Wijimenga C, Hajra A, Blake TB, Kelley CA, Adelstein RS, Bagg A, Rector J, Cotelingam J, Willman CL, Collins FS. Identification of the chimeric protein of the CBFb- MYH11 fusion gene in Inv(16) leukemia cells. Genes, Chromosomes & Cancer 1996; 16:77- 78. This paper has been partially retracted; see Genes, Chromosomes & Cancer 1997; 18:71.
     
     
211. Pecker I, Avraham K, Gilbert D, Savitsky K, Rotman G, Harnik R, Fukao T, Schröck E, Hirotsune S, Tagle DA, Collins FS, Wynshaw-Boris A, Ried T, Copeland NG, Jenkins NA, Shiloh Y, Ziv Y: Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene. Genomics 1996; 35:39-45.
     
     
212. Russell MW, Munroe DJ, Bric E, Housman DE, Band-Dietz J, Reithman HC, Collins FS, Brody LC: A 500-kb physical map and contig from the Harvey ras-1 gene to the 11p telomere. Genomics 1996; 35:353-360.
     
     
213. Russell MW, MacDonald D, Collins FS, Brody LC: KVLQT1 mutations in three families with familial or sporadic long QT syndrome. Hum Molec Genet 1996; 5:1319-1324.
     
     
214. Burke W, Ellis Kahn MJ, Garber JE, Collins FS: First do no harm: also applies to cancer susceptibility testing. The Cancer Journal 1996; 2:250-252.
     
     
215. Barlow C, Hirostune S, Paylor R, Liyanage M, Eckhaus M, Brown K, Collins FS, Shiloh Y, Crawley J, Ried T, Tagle D, Wynshaw-Boris A: Atm-deficient mice: a model of ataxia- telangiectasia. Cell 1996, 86:159-171.
     
     
216. Abel KJ, Brody LC, Valdes JM, Erdos MR, McKinley DR, Castilla LH, Merajver SD, Couch FJ, Friedman LS, Ostermeyer EA, Lynch ED, King MC, Welcsh PL, Osborne-Lawrence S, Spillman M, Bowcock AM, Collins FS, Weber BL: Characterization of EZH1, a human homolog of Drosophila enhancer of zeste near BRCA1. Genomics 1996; 37:161-171.
     
     
217. Wilkinson DJ, Mansoura MK, Watson PY, Smit LS, Collins FS, Dawson DC: CFTR: The nucleotide binding folds regulate the accessibility and stability of the activated state. J Gen Physiol. 1996; 107:103-119.
     
     
218. Magnuson VL, Ally DS, Nylund SJ, Karanjawala ZE, Rayman JB, Knapp JI, Lowe AL, Ghosh S, Collins FS: Substrate nucleotide-determined non-templated addition of adenine by Taq DNA polymerase: implications for PCR-based genotyping and cloning. BioTechniques 1996; 21:700-709.
     
     
219. Lubensky IA, Debelenko LV, Zhuang Z, Emmert-Buck MR, Dong Q, Chandrasekharappa S, Guru SC, Manickam P, Olufemi S-E, Merino MJ, Marx SJ, Spiegel AM, Collins FS, Liotta LA: Allelic deletions on chromosome 11q13 in multiple tumors from individual MEN1 patients. Cancer Research 1996; 56:5272-5278.
     
     
220. Castilla LH, Wijmenga C, Wang Q, Stacy T, Speck NA, Eckhaus M, Marin-Padilla M, Collins FS, Wynshaw-Boris A, Liu PP: Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11. Cell 1996; 87:687-696.
     
     
221. Smith JR, Freije D, Carpten JD, Gronberg H, Xu J, Isaacs SD, Brownstein MJ, Bova GS, Guo H, Bujnovszky P, Nusskern DR, Damber JE, Emanuelsson M, Kallioniemi OP, Walker-Daniels J, Bailey-Wilson JE, Beaty TH, Meyers DA, Walsh PC, Collins FS, Trent JM, Isaacs WB: Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science 1996; 274:1371-1374.
     
     
222. Hacia JG, Brody LC, Chee MS, Fodor SPA, Collins FS: Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet 1996; 14:441-447.
     
     
223. Ghosh S, Collins FS: The geneticist's approach to complex disease. Annu Rev Med 1996; 47:333-353.
     
     
224. Russell MW, Du Manoir S, Munroe DJ, Collins FS, Brody LC: Chromosomal localization of 15 ion channel genes. Som Cell Molec Genet. 1996; 22:425-431.
     
     
225. Smalley SL, Collins FS: Autism: Genetic, prenatal, and immunologic factors. J Autism and Devel Disorders. 1996; 26 195-198.
     
     
226. Ghosh S, Karanjawala ZE, Hauser ER, Ally D, Knapp JI, Rayman JB, Musick A, Tannenbaum J, Te C, Shapiro S, Eldridge W, Muscik T, Martin C, Smith JR, Carpten JD, Brownstein MJ, Powell JI, Whiten R, Chines P, Nylund SJ, Magnuson VL, Boehnke M, Collins FS: Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. Genome Research 1997; 7:165-177.
     
     
227. Brown KD, Ziv Y, Sadanandan SN, Chessa L, Collins FS, Shiloh Y, Tagle DA: The ataxia- telangiectasia gene product, a constitutively expressed nuclear protein that is not upregulated following genome damage. Proc Natl Acad Sci USA 1997; 94:1840-1845.
     
     
228. Russell MW, du Manoir S, Collins FS, Brody LC: Cloning of the human NADH: ubiquinone oxidoreductase subunit B13: localization to chromosome 7q32 and identification of a pseudogene on 11p15. Mammalian Genome 1997; 8:60-61.
     
     
229. Debelenko LV, Emmert-Buck MR, Pachiappan M, Kester MB, Guru SC, DiFranco EM, Olufemi SE, Agarwal S, Lubensky IA, Zhuang Z, Burns AL, Spiegel AM, Liotta LA, Collins FS, Marx SJ, Chandrasekharappa SC: Haplotype analysis defines a mimimal interval for the multiple endocrine neoplasia type 1 (MEN1) gene. Cancer Research 1997; 57:1039-1042.
     
     
230. Highsmith WE, Burch LH, Zhou Z, Olsen JC, Strong TV, Smith T, Friedman KJ, Silver LM, Boucher RC, Collins fs, Knowles MR: Identification of a splice site mutation (2789+5 G?A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis. Human Mutation 1997; 9:332-338.
     
     
231. Rothenberg, K, Fuller B, Rothstein M, Duster T, Kahn MJE, Cunningham R, Fine B, Hudson K, King MC, Murphy P, Swergold G, Collins FS. Genetic information and the workplace: legislative approaches and policy challenges. Science 1997; 275:1755-1757.
     
     
232. 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 1997; 276:404-407.
     
     
233. Dong Q, Debelenko LV, Chandrasekharappa S, Lottman C, Emmert-Buck MR, Zhuang Z, Guru SC, Manickam P, Skarulis M, Lubensky IA, Liotta LA, Collins FS, Marx SJ, Spiegel AM: Loss of heterozygosity at 11q13: analysis of pituitary tumors, lung carcinoids, lipomas, and other uncommon tumors in subjects with familial multiple endocrine neoplasia type 1 MEN1. J Clin Endo Metab 1997; 82:1416-1420.
     
     
234. Sood R, Blake T, Aksentijevich I, Wood G, Chen X, Gardner D, Shelton DA, Mangelsdorf M, Osborn A, Pras E, Balow JE, Centola M, Deng Z, Zaks N, Chen X, Richards N, Fischel-Ghodsian N, Rotter JI, Pras M, Shohat M, Deaven LL, Gumucio DL, Callen DF, Richards RI, Collins FS, Liu P, Kastner KL, Doggett NA: Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial mediterranean fever locus (MEFV) on 16p13.3. Genomics 1997; 42:83-90.
     
     
235. Humphrey JS, Salim A, Erdos MR, Collins FS, Brody LC, Klausner RD: Human BRCA1 inhibits growth in yeast: Potential use in diagnostic testing. Proc Natl Acad Sci USA 1997; 94:5820-5825.
     
     
236. 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 Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997; 16:235-242.
     
     
237. Debelenko LV, Zhuang Z, Emmert-Buck MR, Chandrasekharappa SC, Manickam P, Guru SC, Marx SJ, Skarulis MC, Spiegel AM, Collins FS, Jensen RT, Liotta LA, Lubensky IA: Allelic deletions on chromosome 11q13 in MEN1-associated and sporadic gastrinomas and pancreatic endocrine tumors. Cancer Research 1997; 57:2238-2243.
     
     
238. Agarwal SK, Kester MB Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC, Doppman JL, Kim YS, Lubensky IA, Zhuang Z, Boguski MS, Weisemann J, Green JS, Guru S, Manickam P, Olufemi SE, Liotta LA, Chandrasekharappa SC, Collins FS, Spiegel AM, Burns AL, Marx SJ: Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Human Molecular Genetics 1997; 6:1169-1175.
     
     
239. Guru SC, Olufemi SE, Manickam P, Cummings C, Gieser LM, Pike BL, Bittner ML, Jiang Y, Chinnault AC, Novack NJ, Brzozowska A, Crabtree JS, Wang Y, Roe BA, Weisemann JM, Boguski MS, Agarwal SK, Burns AL, Spiegel AM, Marx SJ, Flejter WL, deJong PJ, Collins FS, Chandrasekharappa SC: A 2.8 Mb clone contig of the multiple endocrine neoplasia type 1 (MEN1) region at 11q13. Genomics 1997; 42:436-445.
     
     
240. Wilkinson DJ, Strong TV, Mansoura MK, Wood DL, Smith SS, Collins FS, Dawson DC. CFTR activation: additive effects of stimulatory and inhibitory phosphorylation sites in the R domain. Am. J. Physiol. 1997; 273:L127-L133.
     
     
241. Heppner C, Kester MB, Agarwal SK, Debelenko LY, Emmert-Buck MR, Skarulis MC, Doppman JL, Alexander RH, Kim YS, Saggar S,Lubensky IA, Zhuang Z, Boguski MS, Weisemann J, Guru SC, Manickam P, Olufemi SE, Liotta LA, Chandrasekharappa, Collins FS, Spiegel AM, Burns AL, Marx SJ: Somatic mutation of the MEN1 gene in parathyroid tumors. Nat Genet 1997; 16:375-378.
     
     
242. Aksentijevich I, Centola M, Deng Z, Sood R, Balow JE, Wood G, Zaks N, Mansfield E, Chen X, Eisenberg S, Vedula A, Shafran N, Raben N, Pras E, Pras M, Kastern DL, Blake T, Baxevanis AD, Robbins C, Krizman D, Collins FS, Liu P, Chen X, Shohat M, Hamon M, Kahan T, Cercek A, Rotter JI, Fischel-Ghodsian N, Richards N, Shelton DA, Gumucio D, Yokoyama Y, Mangelsdorf M, Orsborn A, Richards RI, Ricke DO, Buckingham JM, Moyzis RK, Deaven LL, Doggett NA: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial mediterranean fever. Cell 1997; 90:797-807.
     
     
243. Guru SC, Agarwal SK, Manickam P, Olufemi SE, Crabtree JS, Weisemann JM, Kester MB, Kim YS, Wang Y, Emmert-Buck MR, Liotta LA, Spiegel AM, Boguski MS, Roe BA, Collins FS, Marx SJ, Burns AL, Chandrasekharappa SC: A transcript map for the 2.8 Mb region containing the multiple endocrine neoplasia type 1 (MEN1) locus. Genome Research 1997; 7:725-735.
     
     
244. Balow JE, Shelton DA, Orsborn A, Mangelsdorf M, Aksentijevich I, Blake T, Sood R, Gardner D, Liu R, Pras E, Levy EN, Centola M, Deng Z, Zaks N, Wood G, Chen X, Richards N, Shohat M, Livneh A, Pras M, Doggett NA, Collins FS, Liu PP, Rotter JI, Fischel-Ghodsian N, Gumucio D, Richards RI, Kastner DL. A high-resolution genetic map of the familial mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups. Genomics 1997; 44:280-291.
     
     
245. Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS. Characterization of the CHD family of proteins. Proc Natl Acad Sci USA 1997; 94:11472-11477.
     
     
246. Manickam P, Guru SC, Debelenko LV, Agarwal SK, Olufemi SE, Weisemann JM, Boguski M, Crabtree JS, Wang Y, Roe BA, Lubensky IA, Zhuang Z, Kester MB, Burns AL, Spiegel AM, Marx SJ, Liotta LA, Emmert-Buck MR, Collins FS, Chandrasekharappa SC: Eighteen new polymorphic markers in the multiple endocrine neoplasia type 1 (MEN1) region: Human Genetics 1997; 101:102-108.
     
     
247. Zhuang Z, Vortmeyer AO, Pack S, Huang S, Pham TA, Wang C, Park WS, Agarwal SK, Debelenko LV, Kester MB, Guru SC, Manickam P, Olufemi SE, Yu F, Heppner C, Skarulis MC, Venzon DJ, Emmert-Buck MR, Spiegel AM, Chandrasekharappa SC, Collins FS, Burns AL, Marx SJ, Jensen RT, Liotta LA, Lubensky IA. Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas. Cancer Research 1997; 57:4682-4686.
     
     
248. Gronberg H, Isaacs SD, Smith JR, Carpten JD, Bova GS, Freije D, Xu J, Meyers DA, Collins FS, Trent JM, Walsh PA, Isaacs WB: Clinical and pathologic characteristics of families providing evidence of linkage to the hereditary prostate cancer (HPC1) locus on chromosome 1. JAMA 1997; 278:1251-1255.
     
     
249. Collins FS, Guyer MS, Chakravarti A. Variations on a theme: cataloging human DNA sequence variation. Science 1997; 278:1580-1581.
     
     
250. Debelenko LV, Brambilla E, Agarwal SK, Swalwell JI, Kester MB, Lubensky IA, Zhuang Z, Guru SC, Manickam P, Olufemi SE, Chandrasekharappa SC, Crabtree JS, Kim YS, Heppner C, Burns AL, Spiegel AM, Marx SJ, Liotta LA, Collins FS, Travis WD, Emmert-Buck MR. Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. Human Molecular Genetics 1997; 6:2285-2290.
     
     
251. Emmert-Buck MR, Lubensky IA, Dong Q, Chandrasekharappa SC, Guru SC, Manickam P, Kester MB, Olufemi SE, Agarwal S, Burns AL, Spiegel AM, Collins FS, Marx SJ, Zhuang Z, Liotta LA, Debelenko LV: Localization of the multiple endocrine neoplasia type 1 (MEN1) gene based on tumor loss of heterozygosity analysis. Cancer Research 1997; 57:1855-1858.
     
     
252. Zhuang Z, Ezzat SZ, Vortmeyer AO, Weil R, Oldfield EH,Park WS, Pack S, Huang S, Agarwal SK, Guru SC, Manickam P, Debelenko LV, Kester MB, Olufemi SE, Heppner C, Burns AL, Spiegel AM, Marx SJ, Chandrasekharappa SC, Collins FS, Emmert-Buck MR, Liotta LA, Asa SL, Lubensky IA. Mutations of the MEN1 tumor suppressor gene in pituitary tumors. Cancer Research 1997; 57:5446-5451.
     
     
253. Hacia JG, Makalowski W, Edgemon K, Erdos MR, Robbins CM, Fodor SPA, Brody LC, Collins FS. Evolutionary sequence comparisons using high-density oligonucleotide arrays. Nat Genet 1998; 18:155-158.
     
     
254. Guru SC, Goldsmith PK, Burns AL, Marx SJ, Spiegel AM, Collins FS, Chandrasekharappa SC. Menin, the product of the MEN1 gene, is a nuclear protein. Proc Natl Acad Sci USA 1998; 95:1630-1634.
     
     
255. Olufemi SE, Green JS, Manickam P, Guru SC,Agarwal SK, Kester MB, Dong Q, Burns AL, Spiegel AM, Marx SJ, Collins FS, Chandrasekharappa SC: Common ancestral mutation in the MEN1 gene is likely responsible for prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland. Human Mutation 1998; 11:264-269.
     
     
256. Mansoura MK, Smith SS, Choi A, Richards NW, Strong TV, Drumm ML, Collins FS, Dawson Cystic fibrosis transmembrane conductance regulator (CFTR): anion binding as a probe of the pore. Biophysical Journal 1998; 74:1320-1332.
     
     
257. Emmert-Buck MR, Debelenko LV, Agarwal S, Kester MB, Manickam P, Zhuang Z, Guru SC, Olufemi SE, Burns AL, Chandrasekharappa SC, Lubensky IA, Liotta LA, Skarulis MC, Spiegel AM, Marx SJ, Collins FS: 11q13 allelotype analysis in 27 northern American MEN1 kindreds identifies two distinct founder chromosomes. Molecular Genetics and Metabolism 1998; 63:151-155.
     
     
258. Hacia JG, Brody LC, Collins FS. New approaches to BRCA1 mutation detection. Breast Disease 1998; 10:45-59.
     
     
259. Valle T, Tuomilehto J, Bergman RN, Ghosh S, Hauser ER, Eriksson J, Nylund SJ, Kohtamaki K, Tuomilehto-Wolf E,Toivanen L, Vidgren G, Ehnholm C, Blaschak J, Langefeld CD, Watanabe RM, Magnuson V, Ally DS, Hagopian WA, Ross E, Buchanan TA, Collins FS, Boehnke M: Mapping genes for NIDDM: Design of the Finland-United States investigation of NIDDM genetics (FUSION) study. Diabetes Care 1998; 21:949-958.
     
     
260. Krkljus S, Abernathy CR, Johnson JS, Williams CA, Driscoll DJ, Zori R, Stalker HJ, Rasmussen SA, Collins FS, Kousseff BG, Baumbach L, Wallace MR. Analysis of CpG C-toT mutations in neurofibromatosis type 1. Human Mutation 1997; 129 (on-line).
     
     
261. Burke W, Thomson E, Khoury M, McDonnell SM, Press N, Adams PC, Barton JC, Beutler E, Brittenham G, Buchanan A, Clayton EW, Cogswell ME, Meslin Em, Motulsky AG, Powell LW, Sigal E, Wilfond BS, Collins FS. Consensus Statement: hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA 1998; 280:172-178.
     
     
262. Agarwal SK, Debelenko LV, Kester MB, Guru SC, Manickam P, Olufemi SE, Skarullis MC, Heppner C, Crabtree JS, Lubensky IA, Zhuang Z, Kim YS, Chadrasekharappa SC, Collins FS, Liotta LA, Spiegel AM, Burns AL, Emmert-Buck MR, Marx SJ. Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families. Human Mutation 1998; 12:75-82.
     
     
263. Guru SC, Manickam P, Crabtree JS, Olufemi SE, Agarwal SK, Debelenko LV, Zhuang Z, Lubensky IA, Kester, MB, Kim YS, Heppner C, Weisemann JM, Boguski MS, Wang Y, Roe BA, Burns AL, Liotta LA, Spiegel AM, Emmert-Buck MR, Marx SJ, Collins FS, Chandrasekharappa SC. Identification and characterization of the multiple endocrine neoplasia type 1 (MEN1) gene. Journal of Internal Medicine 1998; 243:433-439.
     
     
264. Marx SJ, Agarwal SK, Kester MB, Heppner C, Kim YS, Emmert-Buck MR, Debelenko LV, Lubensky IA, Zhuang Z, Guru SC, Manickam P, Olufemi SE, Skarulis MC, Doppman JL, Alexander RH, Liotta LA, Collins FS, Chandrasekharappa SC. Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1). Journal of Internal Medicine 1998; 243:447-453.
     
     
265. Ghosh S, Hauser ER, Magnuson VL, Valle T, Ally DS, Karanjawala ZE, Rayman JB, Knapp JI, Musick A, Tannenbaum J, Te C, Eldridge W, Shapiro S, Musick T, Martin C, So A, Witt A, Harvan JB, Watanabe RM, Hagopian W, Eriksson J, Nylund S, Kohtamaki K, Tumilehto-Wolf E, Toivanen L, Vidgren G, Ehnholm C, Bergman R, Tuomilehto J, Collins FS, Boehnke M. A large sample of Finnish diabetic sib pairs reveals no evidence for a non-insulin-dependent diabetes mellitus susceptibility locus at 2qter. Journal of Clinical Investigation 1998; 102:704-709.
     
     
266. Hacia JG, Edgemon K, Sun B, Stern D, Fodor SPA, Collins FS. Two color hybridization analysis using high density oligonucleotide arrays and energy transfer dyes. Nucleic Acids Research 1998; 26:3865-3866.
     
     
267. Mansoura MK, Collins FS. Medical implications of the genetic revolution. J Health Care Law & Policy 1998; 1:329-352.
     
     
268. Marx, S, Spiegel AM, Skarulis MC, Doppman JL, Collins FS, Liotta LA. Multiple endocrine neoplasia type 1: clinical and genetic topics. Annals of Internal Medicine 1998; 129:484-494.
     
     
269. Xu J, Meyers DA, Smith JR, Carpten JD, Stephan D, Gillanders E, Bailey-Wilson JE, Collins FS, Trent JM, Freije D, Isaacs SD, Wiley K, Nusskern D, Ewing CM, Walsh PC, Isaacs WB, Kallioneimi OP, Gronberg H. Evidence for a prostate cancer susceptibility locus on the X chromosome. Nat Genet 1998; 20:175-179.
     
     
270. Karanjawala ZE, Collins FS. Genetics in the context of medical practice. JAMA 1998; 280:1533-1534.
     
     
271. Hacia JG, Woski SA, Fidanza J, Edgemon K, Hunt N, McGall G, Fodor SPA, Collins FS. Enhanced high density oligonucleotide array-based sequence analysis using modified nucleoside triphosphates. Nucleic Acids Research 1998; 26:4975-4982.
     
     
272. Hacia JG, Brody LC, Collins FS. Applications of DNA chips for genomic analysis. Molecular Psychiatry 1998; 3:483-492.
     
     
273. Collins FS, Patrinos A, Jordan E, Chakravarti A, Gesteland R, Walters LR. New goals for the U.S. Human Genome Project: 1998-2003. Science 1998; 282:682-689.
     
     
274. Collins FS, Brooks LD, Chakravarti A: A DNA polymorphism discovery resource for research on human genetic variation. Genome Research 1998; 8:1229-1231.
     
     
275. Hacia JG, Sun B, Hunt N, Edgemon K, Mosbrook D, Robbins C, Fodor SPA, Tagel DA, Collins FS. Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Research 1998; 8:1245-1258.
     
     
276. Agarwal SK, Guru SC, Heppner C, Erdos MR, Collins RM, Park SY, Saggar S, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL. Menin interacts with the AP1 transcription factor JunD and represses JunD activated transcription. Cell 1999; 96:143-152.
     
     
277. Centola M, Chen X, Sood R, Deng Z, Aksentijevich I, Blake T, Ricke DO, Chen X, Wood G, Zaks N, Richards N, Krizman D, Mansfield E, Apostolou S, Liu J, Shafran N, Vedula A, Hamon M, Cercek A, Kahan T, Gumucio D, Callen DF, Richards RI, Doggett NA, Moyzis RK, Collins FS, Liu P, Fischel-Ghodsian N, Kastner DL. Construction of an ~ 700 kb transcript map around the familial mediterranean fever locus on chromosome 16p13.3. Genome Research 1998; 8:1172-1191.
     
     
278. Ghosh S, Langefeld C, Ally D, Watanabe RM, Hauser ER, Magnuson VL, Nylund SJ, Valle T, Ericksson, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. The Trp64Arg varient of the $3-adrenergic receptor is not associated with type 2 diabetes or obesity in a large Finnish sample. Diabetologia 1999; 42:238-244.
     
     
279. Ghosh S, Watanabe RM, Hauser ER, Langefeld CD, Valle T, Magnuson VL, Ally DS, Erdos M, Balow J, Musick A, Te C, Tannebaum J, Eldridge W, Shapiro S, Martin C, Witt A, So A, Chang J, Shurtleff B, Porter R, Kudelko K, Unni A, Segal L, Sharaf R, Blaschak-Harvan J, Tuomilehto-Wolf E, Hagopian W, Tuomilehto J, Bergman RN, Collins fs, Boehnke M. Type 2 diabetes: Evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. Proc Natl Acad Sci USA 1999; 96:2198-2203.
     
     
280. Watanabe RM, Valle T, Hauser ER, Ghosh S, Eriksson J, Kohtamaki K, Ehnholm C, Tuomilehto J, Collins FS, Bergman RN, Boehnke M. Familiality of quantitative metabolic traits in Finnish families with non-insulin-dependent diabetes mellitus. Human Heredity 1999;49:159-168.
     
     
281. Hacia JG, Fan JB, Ryder O, Jin L, Edgemon K, Ghandour G, Mayer RA, Sun B, Hsie L, Robbins CM, Brody LC, Wang D, Lander ES, Lipshutz R, Fodor SPA, Collins FS. Determination of ancestral alleles for human single nucleotide polymorphism using high-density oligonucleotide arrays. Nat Genet 1999; 22:164-167.
     
     
282. Guru SC, Crabtree JS, Brown KD, Dunn KJ, Manickam P, Prasad BN, Wangsa D, Burns AL, Spiegel AM, Marx SJ, Pavan WJ, Collins FS, Chandrasekharappa SC. Isolation, genomic organization and expression analysis of MEN1, the murine homolog of the MEN1 gene. Mammalian Genome 1999; 10:592-596.
     
     
283. Marx SJ, Agarwal SK, Heppner C, Kim YS, Kester MB, Goldsmith PK, Skarulis MC, Spiegel AM, Burns AL, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Emmert-Buck MR, Guru SC, Manickam P, Crabtree JS, Collins FS, Chandrasekharappa SC. The gene for multiple endocrine neoplasia type 1: recent findings. Bone 1999; 25:119-122.
     
     
284. Fuller BP, Ellis Kahn MJ, Barr PA, Biesecker L, Crowley E, Garber J, Mansoura MK, Murphy P, Murray J, Phillips J, Rothenberg K, Rothstein M, Stopfer J, Swergold G, Weber B, Collins FS, Hudson KL. Privacy in genetics research. Science 1999; 285:1359-1361.
     
     
285. Kim, YS, Burns AL, Goldsmith PK, Heppner C, Park SY, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. Stable overexpression of the MEN1 gene suppresses tumorigenicity of RAS. Oncogene 1999; 18:5936-5942.
     
     
286. Hacia JG, Novotny EA, Mayer RA, Woski SA, Ashlock MA, Collins fs. Design of modified oligodeoxyribonucleotide probes to detect telomere repeat sequences in FISH assays. Nucl Acids Res 1999; 27:4034-4039.
     
     
287. Strausberg RL, Feingold EA, Klausner RD, Collins FS. The mammalian gene collection. Science 1999; 286:455-457.
     
     
288. Hacia JG, Collins FS. Mutational analysis using oligonucleotide microarrays. Journal of Medical Genetics 1999; 36:730-736.
     
     
289. 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 2000; 24:27-35.
     
     
290. Debelenko LV, Swalwell JI, Kelley MJ, Brambilla E, Manickam P, Baibakov G, Agarwal SK, Spiegel AM, Marx SJ, Chandrasekharappa SC, Collins FS, Travis WD, Emmert-Buck MR. MEN1 gene mutation analysis of high-grade neuroendocrine lung carcinoma. Genes, Chromosomes, and Cancer 2000; 28:58-65.
     
     
291. Manickam P, Vogel AM, Agarwal SK, Oda T, Spiegel AM, Marx SJ, Collins FS, Weinstein BM, Chandrasekharappa SC. Isolation, characterization, expression and functional analysis of the zebrafish ortholog of MEN1. Mammalian Genome 2000; 11:448-454.
     
     
292. Karanjawala ZE, Kaariainen H, Ghosh S, Tannenbaum J, Martin C, Ally D, Tuomilehto J, Valle T, Collins FS. Complete maternal isodisomy for chromosome 8 in an individual with an early-onset ileal carcinoid tumor. Am J Med Genet 2000; 93:207-210.
     
     
293. Hacia JG, Edgemon K, Fang N, Mayer RA, Sudano D, Hunt N, Collins FS. Oligonucleotide microarray based detection of repetitive sequence changes. Human Mutation 2000; 16:354-363.
     
     
294. Ghosh S, Watanabe RM, Valle TJ, Hauser ER, Magnuson VL, Langefeld CD, Ally DS, Mohlke KL, Silander K, Kohtamaki K, Chines P, Balow J, Birznieks G, Chang J, Eldridge W, Erdos WR, Karanjawala ZE, Knapp JI, Kudelko K, Martin C, Moreles-Mena A, Musick A, Musick T, Pfahl C, Porter R, Rayman JB, Rha D, Segal L, Shapiro S, Sharaf R, Shurtleff B, So A, Tannebaum J, Te C, Tovar J, Unni A, Welch C, Whiten R, Witt A, Blaschak-Harvan J, Douglas JA, Duren WL, Epstein MP, Fingerlin TE, Kaleta HS, Lange EM, Li C, McEachin RC, Stringham HM, Trager E, White PP, Eriksson J, Toivanen L, Vidgren G, Nylund SJ, Tuomilehto-Wolf E, Ross EH, Demirchyan E, Hagopian WA, Buchanan TA, Tuomilehto J, Bergman RN, Collins FS, Boehnke. 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. Ann J Hum Genet 2000; 67:1174-1185.
     
     
295. Watanabe RM, Ghosh S, Langefeld CD, Valle T, Hauser ER, Magnuson VL, Mohlke KL, Silander K, Ally DS, Chines P, Blaschak-Harvan J, Douglas JA, Duren WL, Epstein MP, Fingerlin TE, Kaleta HS, Lange EM, Li C, McEachin RC, Stringham HM, Trager E, White PP, Balow J, Birznieks G, Chang J, Eldridge W, Erdos MR, Karanjawala ZE, Knapp JI, Kudelko K, Martin C, Morales-Mena A, Musick A, Musick T, Pfahl C, Porter R, Rayman JB, Rha D, Segal L, Shapiro S, Sharaf R, Shurtleff B, So A, Tannebaum J, Te C, Tovar J, Unni A, Welch C, White R, Witt A, Kohtamaki K, Ehnholm C, Eriksson J, Toivanen L, Vidgren G, Nylund SJ, Tuomilehto-Wolf E, Ross EH, Demirchyan E, Hagopian WA, Buchanan TA, Tuomilehto 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 quantitative trait loci. Ann J Hum Genet 2000; 67:1186-1200.
     
     
296. Guru SC, Prasad NB, Shin EJ, Hemavathy K, Lu J, Ip T, Agarwal SK, Marx SJ, Spiegel AM, Collins FS, Oliver B, Chandrasekharappa SC. Characterization of a MEN1 ortholog from Drosophila melanogaster. Gene 2001; 263:31-38.
     
     
297. International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001; 409:860-921.
     
     
298. Crabtree JS, Scaheri 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 USA 2001; 98:1118-1123.
     
     
299. Knapp, JI, Heppner C, Hickman AB, Burns AL, Chandrasekharappa SC, Collins FS, Marx SJ, Spiegel AM, Agarwal SK. Identification and characterization of JunD missense mutants that lack menin binding. Oncogene 2000; 19:4706-4712.
     
     
300. Royal C, Baffoe-Bonnie A, Kittles, R, Powell I, Bennett J, Hoke G, Pettaway C, Weinrich S, Vijayakumar S, Ahaghotu C, Mason T, Johnson E, Obeikwe M, Simpson C, Mejia R, Boykin W, Roberson P, Frost J, Faison-Smith L, Meegan C, Foster N, Furbert-Harris P, Carpten J, Bailey-Wilson J, Trent J, Berg K, Dunston G, Collins FS. Recruitment experience in the first phase of the African American Hereditary Prostate Cancer (AAHPC) study. Ann Epidemiol 2000; 10:68-77.
     
     
301. Rotimi CN, Dunston GM, Berg K, Akinsete O, Amoah A, Owusu S, Acheampong J, Boateng K, Oli J, Okafor G, Onyenekwe B, Osotimehin B, Abbiyesuku F, Johnson T, Fasanmade O, Furbert-Harris P, Kittles R, Vekich M, Adegoke O, Bonney G, Collins FS. In search of susceptibility genes for type 2 diabetes in West Africa: The design and results of the first phase of the AADM study. Ann Epidemiol 2001; 11:51-58.
     
     
302. Douglas JA, Erdos MR, Watanabe RM, Braun A, Johnston CL, Oeth P, Mohlke KL, Valle TT, Ehnholm C, Buchanan TA, Bergman RN, Collins FS, Boehnke M, Tuomilehto. The peroxisome poliferator-activated receptor-(2 Pro12Ala variant: association with type 2 diabetes and trait differences. Diabetes 2001; 50:886-890.
     
     
303. Powell IJ, Carpten J, Dunston G, Kittles R, Bennett J, Hoke G, Pettaway C, Weinrich S, Vijayakumar S, Ahaghotu CA, Boykin W, Mason T, Royal C, Baffoe-Bonnie A, Bailey-Wilson J, Berg K, Trent J, Collins FS. African American hereditary prostate cancer study: a model for genetic research. J Natl Med Assoc 2001; 93:120-123.
     
     
304. Lipkin SM, Wang V, Stoler DL, Anderson GR, Kirsch H, Hadley D, Lynch HT, Collins FS. Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers. Human Mutation 2001; 17:389-396.
     
     
305. Mohlke KL, Lange EM, Valle TT, Ghosh S, Magnuson VL, Silander K, Watanabe RM, Chines PS, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. Linkage disequilibrium between microsatellite markers extends beyond 1 cM on chromosome 20 in Finns. Genome Research 2001; 11:1221-1226.
     
     
306. Heppner C, Bilimoria KY, Agarwal SK, Kester MB, Whitty LJ, Guru SC, Chandrasekharappa SC, Collins FS, Spiegel, AM, Marx SJ, Burns AL. The tumor suppressor protein menin interacts with NF- B proteins and inhibits NF- B-mediated transactivation. Oncogene 2001; 20:4917-4925.
     
     
307. Scacheri PC, Crabtree JS, Novotny EA, Garrett-Beal L, Chen A, Edgemon KA, Marx SJ, Spiegel AM, Chandrasekharappa SC, Collins FS. Bidirectional transcriptional activity of PGK-neomycin and unexpected embryonic lethality in heterozygote chimeric knockout mice. Genesis 2001; 30:259-263.
     
     
308. Fingerlin TE, Erdos, MR, Watanabe RM, Stringham HM, Mohkle KL, Silander K, Valle TT, Buchanan TA, Tuomilehto J, Bergman RN, Boehnke M, Collins FS. Variation in three single nucleotide polymorphisms in the calpain-10 gene not associated with type 2 diabetes in a large Finnish cohort. Diabetes 2002; 51:1644-1648.
     
     
309. Patenaude AF, Guttmacher, AE, Collins FS. Genetic testing and psychology: new roles, new responsibilities. American Psychologist 2002; 57:271-282.
     
     
310. Myktyn K, Nishimura DY, Searby CC, Shastri M, Yen Hsan-jan, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet 2002; 31:435-438.
     
     
311. Lipkin SM, Moens PB, Wang V, Lenzi M, Shanmugarajah D, Gilgeous A, Thomas J, Cheng J, Touchman JW, Green ED, Schwartzberg P, Collins FS, Cohen PE. Meiotic arrest and aneuploidy in MLH3-deficient mice. Nat Genet 2002; 31:385-390.
     
     
312. Wolfsberg TG, Wetterstrand KA, Guyer MS, Collins FS, Baxevanis AD. A user's gude to the human genome. Supplement to Nat Genet 2002; 32:2-79.
     
     
313. Guttmacher AG, Collins FS. Genomic Medicine - A Primer. N Engl J Med 2002; 19:1512-1520.
     
     
314. Mouse Genome Sequencing Consortium. Initial sequencing and comparative analysis of the mouse genome. Nature 2002; 420:520-562.
     
     
315. 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. Proc Natl Acad Sci USA 2002; 99:16928-16933.
     
     
316. Sukhodolets KE, Hickman AB, Agarwal SK, Sukhodolets MV, Obungu VH, Novotny EA, Crabtree JS, Chandreasekharappa SC, Collins fs, Spiegel AM, Burns AL, Marx SJ. The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene. Molecular Cell Biology 2003; 23:493-509.
     
     
317. Mammalian Gene Collection (MGC) Program Team. Generation and initial analysis of more than 15,000 full-length and mouse cDNA sequences. Proc Natl Acad Sci USA 2002; 99:16899-16903.
     
     
318. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos 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 2003; 423:293-298.
     
     
319. Fang NY, Greiner, T, Weisenburgr DD, Chan WC, Vose JM, Smith LM, Armitage JO, Mayer RA, Pike BL, Collins FS, Hacia JG. Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma. Proc Natl Acad Sci USA 2003; 100:5372-5373.
     
     
320. Crabtree JS, Scacheri PC, Ward JM, McNally SR, Swain GP, Hage JH, Hanahan D, Edlund H, Magnuson MA, Garrett-Beal L, Burns AL, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS. Of Mice and MEN1: Insulinomas in a conditional mouse knockout. Molecular and Cellular Biology 2003; 23:6075-6085.
     
     
321. Agarwal SK, Novotny EA, Crabtree JS, Weitzman JB, Yaniv M, Burns AL, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter. Proc Natl Acad Sci USA 2003; 100:10770-10775.
     
     
322. Rotimi C, Daniel H, Zhou J, Obisesan A, Chen G, Chen Y, Amoah A, Opoku V, Acheampong J, Agyenim-Boateng K, Eghan BA, Oli J, Okafor G, Ofoegbu E, Osotimehin B, Abbiyesuku F, Johnson T, Fasanmade O, Doumatey A, Aje T, Collins F, Dunston G. Prelalence and determinants of diabetic retinopathy and cataracts in West African type 2 diabetes patients. Ethnicity & Disease 2003; S2110-S2117.

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Non Peer Reviewed Articles

1. Forget BG, Tuan D, Newman MV, Feingold EA, Collins FS, Fukumaki Y, Jagadeeswaran P, Weissman SM: Molecular studies of mutations that increase Hb F production in man. In: Globin Gene Expression and Hematopoietic Differentiation. A. Nienhuis and G. Stamatoyannopoulos (eds), New York: Alan R. Liss, 1983; 65-76.
   
   
2. Fukumaki Y, Collins FS, Kole R Stoeckert CJ, Jagadeeswaran P, Duncan CH, Weissman SM: Sequences of human repetitive DNA, non-a globin genes and major histocompatibility locus genes. In: Structures of DNA. J. Watson (ed), Cold Spring Harbor Symp. Quant Biol 1983; 47:1079-1086.
   
   
3. Reddy ESP, Stoeckert CJ, Collins FS, Weissman SM, Yoshie O, Schmidt H, Lengyel P: New aspects of gene conversion and expression in the globin and MHC systems. In: Gene Expression in Norrnal and Abnormal Hematopoeisis. ICN-UCLA Symposia on Molecular and Cellular Biology. New York: Alan R. Liss, 1983; 101-112.
   
   
4. Feingold EA, Collins FS, Metherall JE, Stoeckert CJ, Weissman SM, Forget BG: Analysis of mutations associated with deletion and non-deletion hereditary persistence of fetal hemoglobin. In: Experimental Approaches for the Study of Hemoglobin Switching. G. Stamatoyannopoulos and A. Nienhuis (eds), New York: Alan R. Liss, 1985.
   
   
5. Collins FS, Weissman SM: Cloning at a distance with a circularization technique. In: Cell Biology of the Major Histocompatibility Complex. B. Pernis and H.J. Vogel (eds), Orlando: Academic Press, 1985; 37-40.
   
   
6. Feingold EA, Collins FS, Metherall JE, Stoeckert CJ, Weissman SM, Forget BG: Molecular analysis of deletion and non-deletion hereditary persistence of fetal hemoglobin and identification of a new mutation causing b-thalassemia. Ann NY Acad Sci 1985; 445: 159-169.
   
   
7. Duceman BW, Srivastava R, Collins FS, Chorney M, Greenspan D, Biro PA, Sood A, Weissman SM: Complexity of class I genes of the human major histocompatibility complex. Advances Inflam Res 1985; 9 :25-31.
   
   
8. Collins FS: Chromosome hopping and human genetic disease. Proceedings of the Banbury Conference on Applications of DNA Probes, L. Lerman (ed), Cold Spring Harbor: Cold Spring Harbor Laboratory Press, 1986; 67-72.
   
   
9. Lawrance SK, Srivastava R, Chorney MJ, Rigas B, Vasavada H, Gillespie GA, Smith C, Cantor C, Collins FS, Weissman SM: The human MHC: Approaches to characterization of megabase regions of DNA. Cold Spring Harbor Symp Quant Biol 1986; 51:123-130.
   
   
10. Shows TB, McAlpine PJ, Boucheix C, Collins FS, Conneally PM, Frezal J, Gershowitz H, Goodfellow PN, Hall JG, Issitt P, Jones CA, Knowles BB, Lewis M, McKusick VA, Meisler M, Morton NE, Rubinstein P, Schanfield MS, Schmickel RD, Skolnick MH, Spence AM, Sutherland GR, Traver M, Van Cong N, Willard HF: Guidelines for human gene nomenclature. Cytogen Cell Genet 1987; 46:11-28.
    
    
11. Collins FS, Martin JB: Huntington's chorea. In: 1989 Yearbook of Science and Technology. McGraw-Hill, New York, pp. 164-167.
    
    
12. Prochownik EV, Collins FS: cDNA and genomic cloning. In: Methods of Hematology: Molecular Genetics. E. Benz (ed), New York: Churchill Livingstone, 1989; 72-87.
    
    
13. Dean M, Stewart C, Perry A, Gerrard B, Beck T, Rapp U, Drumm ML, Iannuzzi MC, Collins FS, O'Brien S: Genetic markers for oncogenes, growth factors, and cystic fibrosis. Modern Trends in Human Leukemia VIII, 1989; 360-365.
    
    
14. Iannuzzi MC, Collins FS: Reverse genetics and cystic fibrosis. Am J Resp Cell Molec Biol 1990; 2:309-316.
    
    
15. Collins FS, Riordan JR, Tsui L-C: The cystic fibrosis gene: Isolation and significance. Hospital Practice 1990; 25:47-57.
    
    
16. Collins FS:Identification of the type I neurofibromatosis gene. Neuroscience Forum 1:5, 1991.
    
    
17. Tanaka M, Chamberlain, Nolan JA, Bhargava AK, Rood K, Collins FS, Weissman SM, Forget BG: Expression of human globin genes in transgenic mice carrying the b-globin gene cluster with a mutation causing Ggb+ hereditary persistence of fetal hemoglobin. Ann NY Acad Sci 1990; 612:167-178.
    
    
18. Collins FS: The genome project and human health. FASEB J 1991; 5:77.
    
    
19. Collins FS: Identification of disease genes: recent successes. Hospital Practice 1991; 26:93-98.
    
    
20. Collins FS: Of needles and haystacks: Finding human disease genes by positional cloning. Clin Res 1991; 39:615-623.
    
    
21. Collins FS: Physician-Scientists: A vanishing breed. Yale Medicine, Fall/Winter 1991-92; 5-8.
    
    
22. Collins FS, Wilson JM: Cystic Fibrosis: A welcome animal model (News and Views). 1992; Nature 358:708-709.
    
    
23. Wilson JM, Collins FS: Cystic fibrosis: More from the modellers. (News and Views) Nature. 1992; 359:195-196.
    
    
24. Collins FS: Identifying human disease genes by positional cloning. In: The Harvey Lectures, 1992; 86:149-164, Wiley-Liss, Inc.
    
    
25. Nakamura T, Ishikawa T, Collins FS: NFI gene and its alteration. CRC 1992; 96-102. (written in Japanese).
    
    
26. Tagle DA, Swaroop M, Loven M, Collins FS: Magnetic bead capture of expressed sequences encoded within large genomic segments. (Review article) Nature 1993; 361:751-753.
    
    
27. Collins FS, Galas D: A new five-year plan for the U.S. Human Genome Project (Policy Forum). Science 1993; 262:43-46.
    
    
28. Brown MS, Collins FS, Goldstein JL, Watson JD, Wexler NS: Roundtable: The Human Genome Project. Issues in Science & Technology 1993; 10; 1:43-50.
    
    
29. Gottesman MM, Collins FS: The role of the human genome project in disease prevention. Preventive Medicine 1994; 23:591-594.
    
    
30. Caskey CT, Collins FS, Juengst ET, McKusick VA: Human genes: The map takes shape. Patient Care 1993; 28:28-43.
    
    
31. Collins FS: Genetic protocols in human genetics (Foreword). In: Current Protocols in Human Genetics 1994.
    
    
32. Collins FS: Colon cancer screening: response (letter). Science 1994; 264:13-14.
    
    
33. Jordan E, Collins FS: Genome delivers: A march of maps. Nature 1996; 380:111-112.
    
    
34. Hudson K, Collins FS: Letter to Editor. Nature 1995; 270:1423.
    
    
35. Collins FS, Fink L: The Human Genome Project. Alcohol Health Research World 1995; 19:190-195.
    
    
36. Collins FS: Letter to Editor. N Engl J Med 1996; 334:1205.
    
    
37. NAPBC Hereditary Susceptibility Working Group. Genetic Screening for Breast Cancer. J Clin Oncology 1996; 14: 1738-1740.
    
    
38. Collins FS, Fink L: The Human Genome Project. Tools of Genetic Research. Alcohol Health & Research World. 1995, 19, No. 3.
    
    
39. Collins FS: Molecular Genetics in Clinical Practice I, Sequencing the Human Genome. Hospital Practice 1997; 32(1):35-53.
    
    
40. Fink L, Collins FS: The Human Genome Project: View from the National Institutes of Health. JAMWA 1997; 52:4-7,15.
    
    
41. Kahn MJ, Jamison KR, Collins FS. Protecting our 'Family Secrets'. Washington Post July 31, 1997, A15.
    
    
42. Collins FS. Preparing health professionals for the genetic revolution (Editorial). JAMA 1997; 278:1285-1286.
    
    
43. Francomano CA, Collins FS. The Human Genome Project: Implications for medical practice. Today's Internist 1997; 38:11-15.
    
    
44. Collins FS, Jenkins JF: Implications of the human genome project for the nursing profession. Monograph in The Genetics Revolution; Implications for Nursing. Edited by Felissa R. Lashley. Amer Acad Nursing 1997.
    
    
45. Collins FS. Foreward In: Inherited Susceptibility to Cancer: Clinical, Predictive and Ethical Perspectives. Cambridge University Press 1998; xiii-xiv.
    
    
46. Marx SJ, Agarwal SK, Kester MB, Heppner C, Kim YS, Skarulis MC, James LA, Goldsmith PK, Saggar SK, Park SY, Spiegel AM, Burns AL. Multiple endocrine neoplasia type 1: clinical and genetic expressions from a tumor suppressor gene. Presented at the 54th Recent Progress in Hormone Research conference in Stevenson, Washington. August 1-5, 1998. Published by the Endocrine Society in Recent Progress in Hormone Research, vol 54.
    
    
47. Collins FS. Genetics: not just in there somewhere, but at the very center of medicine. Genetics in Medicine 1998; 1:3.
    
    
48. Thomson ET, Collins FS. Foreword In: Clinical Genetics in Nursing Practice, 2nd Edition. Felissa R. (Cohen) Lashley, Springer Publishing Company 1998; ix-x.
    
    
49. Marx SJ, Agarwal SK, Heppner C, Kim YS, Kester MB, Goldsmith PK, Skarulis MC, Spiegel AM, Burns AL, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Emmert-Buck MR, Guru SC, Manickam P, Crabtree J, Collins FS, Chandrasekharappa SC. The gene for multiple endocrine neoplasia type 1: recent findings. Presented at the combined meeting of the American Society for Bone and Mineral Research and of the International Bone and Mineral Society. Published in a supplement to the journal Bone.
50. Collins FS. Foreword - microarrays and macroconsequences. Nat Genet 1999; 21:2.
    
    
51. Marx SJ, Agarwal SK, Heppner C, Kim YS, Skarulis MC, Doppman JL, James L, Park S, Bilimoria KY, Knapp JL, Spiegel AM, Burns AL, Debelenko LV, Lubensky IA, Zhuang Z, Liotta LA, Emmert-Buck MR, Guru SC, Manickam P, Crabtree J, Erdos M, Collins FS, Chandrasekharappa SC. Clinical features and pathophysiology of multiple endocrine neoplasia type 1. Presented at the Seventh International Workshop on Multiple Endocrine Neoplasia.
    
    
52. Collins FS, Boehm K. Avoiding casualties in the genetic revolution: The urgent need to educate physicians about genetics. Academic Medicine 1999; 74:48-49.
    
    
53. Collins FS. The Human Genome Project and the Future of Medicine. Talk given at a symposium entitled "Great Issues for Medicine in the 21st Century: A Consideration of the Ethical and Social Issues Arising out of Advances in the Biomedical Sciences" convened by the Dartmouth Medical School, September 1997. Ann NY Acad Sci 1999; 882:42-55.
    
    
54. Collins FS. Genetics: An explosion of knowledge is transforming clinical practice. Geriatrics 1999; 54:41-47.
    
    
55. Collins FS. Shattuck Lecture - Medical and societal consequences of the Human Genome Project. N Engl J Med 1999; 341:28-37.
    
    
56. Collins FS. Proceedings: The genetics of diseases symposium and the RCMI Program Director's March 5-7, 1998 meeting. Howard University Press.
    
    
57. Collins FS. The Human Genome Project: tool of atheistic reductionism or embodiment of the Christian mandate to heal? Science & Christian Belief 1999; 11:99-111.
    
    
58. Collins FS. Proceedings: GAAC 4th Public Symposium "The Changing Character, Use and Protection of Intellectual Property". German-American Academic Council Foundation Press 2000:99-107.
    
    
59. Collins FS, Jegalian KG. Deciphering the code of life. Scientific American 1999; 281:86-91.
    
    
60. Collins FS, Jegalian KG. Soon the human genome project will be completed. What then? The Chronicle of Higher Education 2000, XLVI;B12.
    
    
61. Collins FS, Morgan, M, Patrinos A. International cooperation and the human genome project. Harvard International Review Fall 1999, 21:84-83.
    
    
62. Collins FS, Mansoura M. The Human Genome Project: revealing the shared inheritance of all humankind. American Cancer Society's Intercultural Cancer Council Supplement 2001, 91:221-225.
    
    
63. Collins FS. Realizing the Human Genome Project's potential. Genetics Engineering News 2000.
    
    
64. Collins FS. Guest Essay: Future trends in research in human genetics and genomics. Discover 2000.
    
    
65. Guttmacher AG, Collins FS. Genetic Resources on the Web (GROW). Genetics in Medicine 2000; 2:296-299.
    
    
66. Collins FS, Mansoura M. The promise of the human genome project for the Huntington's disease community. Huntington's Disease Society of America. Toward a Cure Newsletter 2000.
    
    
67. Collins FS, McKusick VA. Implications of the human genome project for medical science. JAMA 2001; 285:540-544.
    
    
68. Collins FS. Contemplating the end of the beginning. Genome Research 2001; 11:64-643.
    
    
69. Collins FS, McKusick VA. Letter to the Editor: Translation of genomic research into health care. JAMA 2001; 285:2447-2448.
    
    
70. Collins FS, Weiss L, Hudson K. Heredity and humanity: Have no fear. Genes aren't everything. New Republic 2001; June 25:27-29.
    
    
71. Collins fs. Reflections from the Director of the National Human Genome Research Institute. Dignity-The Newsletter of the Center for Bioethics and Human Dignity 2001:7:1 & 4.
    
    
72. Collins fs, Guttmacher AE. Genetics moves into the medical mainstream. JAMA 2001; 286:2322-2326.
    
    
73. Collins FS. Foreword. Pharmacogenomics: social, ethical and clinical dimensions. Edited by Mark A. Rothstein. Published by John Wiley & Sons Ltd. 2003; ix-x.
    
    
74. Collins FS. Genomics: the coming revolution in medicine. Global Agenda, Magazine of the World Economic Forum Annual Meeting 2003; 152-154.
    
    
75. Grady, PA, Collins FS. Guest Editorial: Genetics and Nursing Science - Realizing the Potential. Nursing Research March/April 2003; 52:69.
    
    
76. Insel TR, Collins FS. Commemorations: Psychiatry in the Genomics Era. Am J Psychiatry 2003; 160/4:616-620.
    
    
77. Collins FS, Morgan M, Patrinos A. View point: The Human Genome Project: Lessons from Large-Scale Biology. Science 2003; 300:286-290.
    
    
78. Agarwal SK, Burns LA, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB, Mullendore ME, Whitten I, Skarulis M., Simons WF, Mateo C, Crabtree J, Scacheri PC, Ji Y, Novotny EA, Garrett-Beat L, Ward JM, Libutti SK, Alexander RH, Cerrato A, Parisi MH, Samta SAA, Oliver B, Chandrasekharappa SC, Collins fs, Spiegel AM, Marx SJ. Molecular Pathology of the MEN1 Gene. Ann NY Acad Sci 2003 [In Press].
    
    
79. Collins FS, Green ES, Guttmacher AE, Guyer MS. A vision for the future of genomics research. Nature 2003; 422:835-847.
    
    
80. Jenkins J, Collins FS. Are you genetically literate? American Journal of Nursing 2003; 103:13.
    
    
81. Collins FS. Faith and the human genome. 2002 ASA Annual meeting plenary address. Perspectives on Science and Christian Faith 2003; 55:142-153.
    
    
82. Collins FS. Genome Research: The Next Generation. Cold Spring Harbor Symposia on Quantitative Biology, The Genome of Homo sapiens 2003, Vol 68 [In Press].
    
    
83. Brown WT, Gordon LB, Collins FS. Hutchinson-Gilford Progeria. GeneReviews: Clinical Genetic Information Resource, 2003 [Web Pub].
    
    
84. Guttmacher AE, Collins FS. Welcome to the genomic era. Editorial, N Engl J Med 2003; 349:996-998.

Chapters in Books

1. Collins FS: Chromosome jumping. In: Genome Analvsis, Practical Approach. K. Davies (ed), IRL Press, London, 1988.
   
   
2. Gumucio DL, Gray TA, Rood KL, Blanchard KL, Collins FS: Nuclear proteins which bind the human -globin gene. Hemoglobin Switching, Part A: Transcriptional Regulation. George Stamatoyannopoulos and Arthur W. Neinhuis (eds.), Alan R. Liss, Inc., New York, NY. 1989; 129-138.
   
   
3. Wallace MR, Collins FS: Molecular genetics of neurofibromatosis. Adv Human Genetics 1991; 20:267-307; 1991.
   
   
4. Gumucio DL, Blanchard-McQuate KL, Heilstedt-Williamson H, Tagle DA, Gray TA, Tarle SA, Gragowski L, Goodman M, Slightom J, Collins FS: -globin gene regulation: evolutionary approaches. In: The Regulation of Hemoglobin Switching. George Stamatoyannopoulos and Arthur W. Nienhuis (eds.) The Johns Hopkins University Press, Baltimore, MD, 1991; 277-289.
   
   
5. Collins FS, Iannuzzi MC: Genetic Defect in Cystic Fibrosis. Update: Pulmonary Diseases and Disorders. Alfred P. Fishman (ed.), McGraw Hill, Inc. 1992; 83-92.
   
   
6. Chandrasekharappa SC, Marchuk DA, Collins FS: Analysis of yeast artificial chromosome clones. In: Methods in Molecular Biology: Pulsed Field Gel Electrophoresis. M. Burmeister and L Ulanovsky (eds.), Totawa, NJ: The Humana Press, 1992; Vol. 12, 17:235-257.
   
   
7. Marchuk DA, Collins FS: The use of YACs to identify expressed sequences: cDNA screening using total YAC insert. In: YAC Libraries: A User's Guide. D.L. Nelson and BH Brownstein (eds.), New York, NY: W.H. Freeman and Company, 1993; 6: 113-126.
   
   
8. Collins FS, Gelehrter TD: Molecular Genetics. In: The Genetic Basis of Common Disease. RA King, JI Rotter, AG Motulsky (eds), New York, NY: Oxford University Press, 1992; 2: 19-33.
   
   
9. Wallace MR, Collins FS: Neurofibromatosis. In: Molecular Basis of Neurology. PM Conneally (ed.), Boston, Blackwell Scientific Publications. 1993: 2: 160-180.
   
   
10. Strong TV, Collins FS: The structure of the cystic fibrosis gene. In: Current Topics in Cystic Fibrosis. JA Dodge, DJH Brock and JH Widdicombe (eds.), Chichester, England: John Wiley & Sons Ltd., 1993; 1, 1:3-28.
    
    
11. Sferra TJ, Collins FS: The molecular biology of cystic fibrosis. In: Annual Review of Medicine: Selected Topics in the Clinical Sciences. WP Creger, CH Coggins and EW Hancock (eds.) Palto Alto, CA: Annual Reviews Inc., 1993; 44: 133-144.
    
    
12. Marchuk DA, Collins FS: Molecular Genetics of NFl. Chapter 4 in The Neurofibromatoses: A Pathogenetic and Clinical Overview. S. Huson and R. Hughes (eds), London: Chapman and Hall, 1994; 2:23-49.
    
    
13. Drumm ML, Collins FS: Molecular Biology of Cystic Fibrosis. In: Molecular Genetic Medicine. Theodore Friedmann (ed.), AcademicPress, Inc., San Diego, CA, 1993; 3:33-64.
    
    
14. Orenstein DM, Collins FS: Cystic fibrosis: A Guide for Patient and Family, update 1992.
    
    
15. Tagle DA, Swaroop M, Elmer L, Valdes J, Blanchard-McOuate K, Bates G, Baxendale S, Snell R, MacDonald M, Gusella J, Lehrach H, Collins FS: Magnetic bead capture of cDNAs: A strategy for isolating expressed sequences encoded within large genomic segments. In: Advances in Biomagnetic Separation. (eds: M Uhlen, E Hornes and O Olsvik). Eaton Publishing Co. 1993; 91-106.
    
    
16. Gutmann DH, Cole JL, Collins FS: Expression of the neurofibromatosis type 1 (NFl) gene during embryonic mouse development. In: Prog Brain Res. Elsevier, Amesterdam, 1995; 105:327-35.
    
    
17. Gutmann DH, Collins FS: Von Recklinghausen Neurofibromatosis. In: The Metabolic Basis of Inherited Disease, 7th Edition.(eds: ER Scriver, AL Beaudet, WS Sly, D Valle) McGraw Hill. 1995; Vol I, CH 14:677-696.
    
    
18. Abel KJ, Castilla L, Buckler AJ, Ho P, Couch FJ, Collins FS, Weber BL: Isolation of gene sequences from the BRCAI region of chromosome 17q21 by exon amplification. In: Identification of transcribed sequences. (eds: U Hochgeschwender and K. Gardiner) Plenum Publishing Co. 1994; 183 198.
    
    
19. Couch FJ, Weber BJ, Collins FS, Tagle DA: Isolation of expressed sequences from the chromosome 17q21 BRCAl region by magnetic bead capture. In: Identification of Transcribed Sequences. (eds: U Hochgeschwender and K. Gardiner). Plenum Publishing Co, 1994; 51 63.
    
    
20. Collins FS: The Human Genome Project. Life at risk: the crises in medical ethics from the 1993 Christian Life Commission's Annual Seminar on Medical Ethics. Edited by Louis A Moore and Richard D. Land, published by Broadman ~ Holman Publishers, Nashville, TN. 1995; Chptr 6, 100 175.
    
    
21. Francomano CA, Collins FS: The Human Genome Project: Update 1995. Molecular and Functional Aspects of Blood Group Antigens. Edited by Silberstein LE. American Association of Blood Banks, Bethesda, MD. 1995; Chptr 7, 229 237.
    
    
22. Orenstein DM, Collins FS: Genetics. Cystic Fibrosis: A Guide for Patient and Family. Second Edition.
    
    
23. Hajra A, Liu PP, Collins FS: Transforming properties of the leukemic Inv(16) fusion gene CBFB MYHII. In: "Molecular Aspects of Myeloid Stem Cell Development". Transforming properties of the leukemic Inv(16) fusion gene CBFB-MYHll .L. Wolff and A.S. Perkins (Eds.) Springer Verlag Berlin Heidelberg Publisher, 1996 Vol 211:: 289 298. This chapter has been retracted.
    
    
24. Jenkins J, Collins FS: Human genome research: Essentials for nurses. Maternity and Women's Health, ed. Lowdermilk D, Bobak I, Perry S, C.V. Mosby, 1997.
    
    
25. Gutman DH, Collins FS. von Recklinghausen Neurofibromatosis. Metabolic and Molecular Basis of Inherited Disease. CD ROM update July 1996.
    
    
26. Biesecker LG, Biesecker BB, Collins FS: The genome project and molecular diagnosis. Chapter 6. In: Textbook of Internal Medicine, third edition. Edited by William N. Kelley. Lippincott-Raven, Philadelphia, PA 1997; 13-15.
    
    
27. Collins FS: Discovering genes that cause disease. Chapter 2 In: Gene Therapy for Diseases of the Lungs. Edited by Kenneth L. Brigham. Marcel Dekker, Inc., New York, NY, 1997; Chptr. 2, 17-26.
    
    
28. Collins FS, Trent JM: Cancer Genetics In: Harrison''s Principles of Internal Medicine. Edited by Fauci AS, Brauwald E, Isselbacker KJ, Wilson JD, Martin JB, Kasper DL, Hauser SL, Longo DL. The McGraw-Hill Companies, Inc. Fifteenth Edition, Chptr. 81, pgs. 503-509.
    
    
29. Collins FS; Guest Essay In: Biology: Science and Life, Edited by Michael Cummings. West Educational Publishing, 1996; 166-168.
    
    
30. Collins FS; Essay In: Human Heredity, fourth edition. Edited by Michael Cummings. West Educational Publishing, 1997; 304.
    
    
31. Jenkins J, Collins FS. Gene and Chromosomes - Human Genome Project. In: Maternal Child Nursing Care. Edited by Donna L. Wong and Shannon E. Perry. Mosby-Year Book, Inc., St. Louis, Missouri, 1998, Chptr. 4, 52-53.
    
    
32. Marx SJ, Agarwal SK, Kester MB, Kim YS, Heppner C, Spiegel AM, Burns AL, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky I, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Doppman JL, Skarulis MC, Alexander RH, Guru SC, Manickam P, Olufemi SE, Collins FS, Chandrasekharappa SC: Multiple endocrine neoplasia type 1: from clinical physiology to the gene. Chapter 3 In: Parathyroid Diseases: Gene to the Cure. Edited by M.L. Brandi. SEE Editrice-Firenze, Firenze, 1997.
    
    
33. Fink L, Collins FS; The Human Genome Project:: Evolving Status and Emerging Opportunities for Disease Prevention. In: Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease. Khoury MJ, Burke W, Thomson E (eds), Oxford University Press, 2000, Chptr. 3, 45-59.
    
    
34. Smith JR, Gelehrter TD, Collins FS: Molecular Genetics of Common Disease. In: The Genetic Basis of Common Disease, Second Edition. RA King, JI Rotter, AG Motulsky (eds), New York, NY: Oxford University Press 2000.
    
    
35. Woodage, T, Collins FS. The Genetic Basis of Medicine. In: Oxford Textbook of Medicine-4th Edition. Benz EJ, McNeil A (eds), Oxford University Press 2000.
    
    
36. Collins FS, Jegalian K. Human Genome Project. In:: The Encyclopedia of Public Health. Breslow L, Green LW, Keck W, Last J, Lave L, McGinnis M (eds), Macmillan Reference 2000.
    
    
37. Collins FS, Gutmann DH. Neurofibromatosis 1. Peripheral neurofibromatosis in the genetic basis of human cancer. In: The Metabolic and Molecular Basis of Inherited Disease. Vogelstein B, Kinzler KW (eds), McGraw-Hill 2000, Chptr. 39, 877-896.
    
    
38. Biesecker LG, Biesecker BB, Collins FS: The genome project and molecular diagnosis. Chapter 3. In: Textbook of Internal Medicine, fourth edition. Edited by William N. Kelley. Lippincott Williams & Wilkins. (in press).
    
    
39. Collins FS; Essay In: Human Heredity, sixth edition. Edited by Michael Cummings. West Educational Publishing 2001 (in press).
    
    
40. Collins FS. Human Genetics. In: Cutting-Edge Bioethics: A Christian Exploration of Technologies and Trends. Kilner, Hook, & Uustal (eds), Wm. B. Eerdmans Publishing Co. 2002, Chptr. 1, 3-17.

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Book

1. Gelehrter TD, Collins FS, Ginsburg D: Principles of Medical Genetics. Williams and Wilkins, Baltimore, 2nd edition, 1998.

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Last Reviewed: February 2004