Works matching Francis S. Collins

Results: 266

Francis S. Collins.
Published in:
2004
By:
- Collins, Francis S.
Publication type:
Interview
NIH Director, Francis S. Collins in India.
Published in:
2012
By:
- Malhotra, Richa
Publication type:
Interview
Former NIH Director Francis S. Collins on the New White House Plan to Eliminate Hepatitis C.
Published in:
JAMA: Journal of the American Medical Association, 2023, v. 329, n. 15, p. 1246, doi. 10.1001/jama.2023.3942
By:
- Abbasi, Jennifer
Publication type:
Article
After 12 Years, NIH Director Francis S. Collins Seeks His Next Chapter.
Published in:
2021
By:
- Abbasi, Jennifer
Publication type:
Biography
Introduction of Francis S. Collins.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 9, p. 3321, doi. 10.1172/JCI83698
By:
- Ginsburg, David
Publication type:
Article
A conversation with Francis Collins. Interview by Ushma S. Neill.
Published in:
2012
By:
- Collins F;
- Collins, Francis
Publication type:
Interview
Alan E. Guttmacher, Francis S. Collins, Jeffrey M. Drazen (eds): Genomic medicine: articles from the New England Journal of Medicine: Johns Hopkins University Press (2004), The New England Journal of Medicine, ISBN 0-8018-7979-5, paperback, £27.50.
Published in:
Human Genetics, 2004, v. 115, n. 3, p. 265
By:
- Read, Andrew P.
Publication type:
Article
An Interview with Francis S. Collins, M.D., Ph.D. Director, National Human Genome Research Institute.
Published in:
Assay & Drug Development Technologies, 2003, v. 1, p. 119, doi. 10.1089/154065803321537836
Publication type:
Article
Collins, Francis S.
Published in:
Ideas y Valores, 2011, n. 147, p. 240
By:
- C., Armando Rojas
Publication type:
Article
Francis S. Collins: Transformer and translator for NIH.
Published in:
FASEB Journal, 2021, v. 35, n. 12, p. 1, doi. 10.1096/fj.202101611
By:
- Pederson, Thoru
Publication type:
Article
A welcome animal model.
Published in:
Nature, 1992, v. 358, n. 6389, p. 708, doi. 10.1038/358708a0
By:
- Collins, Francis S.;
- Wilson, James M.
Publication type:
Article
Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia.
Published in:
Human Mutation, 2013, v. 34, n. 10, p. 1352, doi. 10.1002/humu.22371
By:
- Daniels, M. Leigh Anne;
- Leigh, Margaret W.;
- Davis, Stephanie D.;
- Armstrong, Michael C.;
- Carson, Johnny L.;
- Hazucha, Milan;
- Dell, Sharon D.;
- Eriksson, Maria;
- Collins, Francis S.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.
Publication type:
Article
Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.
Published in:
Human Mutation, 2001, v. 17, n. 5, p. 389, doi. 10.1002/humu.1114
By:
- Lipkin, Steven M.;
- Wang, Victoria;
- Stoler, Dan L.;
- Anderson, Garth R.;
- Kirsch, Ilan;
- Hadley, Don;
- Lynch, Henry T.;
- Collins, Francis S.
Publication type:
Article
Oligonucleotide microarray based detection of repetitive sequence changes.
Published in:
Human Mutation, 2000, v. 16, n. 4, p. 354, doi. 10.1002/1098-1004(200010)16:4<354::AID-HUMU8>3.0.CO;2-V
By:
- Hacia, Joseph G.;
- Edgemon, Keith;
- Fang, Nicole;
- Mayer, R. Aeryn;
- Sudano, Dominick;
- Hunt, Nathaniel;
- Collins, Francis S.
Publication type:
Article
Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.
Published in:
Human Mutation, 1998, v. 12, n. 2, p. 75, doi. 10.1002/(SICI)1098-1004(1998)12:2<75::AID-HUMU1>3.0.CO;2-T
By:
- Agarwal, Sunita K.;
- Debelenko, Larisa V.;
- Kester, Mary Beth;
- Guru, Siradanahalli C.;
- Manickam, Pachiappan;
- Olufemi, Shodimu-Emmanuel;
- Skarulis, Monica C.;
- Heppner, Christina;
- Crabtree, Judy S.;
- Lubensky, Irina A.;
- Zhuang, Zhengping;
- Kim, Young S.;
- Chandrasekharappa, Settara C.;
- Collins, Francis S.;
- Liotta, Lance A.;
- Spiegel, Allen M.;
- Burns, A. Lee;
- Emmert-Buck, Michael R.;
- Marx, Stephen J.
Publication type:
Article
Analysis of CpG C-to-T mutations in neurofibromatosis type 1.
Published in:
Human Mutation, 1998, v. 11, n. 5, p. 411, doi. 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2
By:
- Krkljus, Sofia;
- Abernathy, Corinne R.;
- Johnson, Jennifer S.;
- Williams, Charles A.;
- Driscoll, Daniel J.;
- Zori, Roberto;
- Stalker, Heather J.;
- Rasmussen, Sonja A.;
- Collins, Francis S.;
- Kousseff, Boris G.;
- Baumbach, Lisa;
- Wallace, Margaret R.
Publication type:
Article
Common ancestral mutations in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1<sub>Burin</sub>) in four kindreds from Newfoundland.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 264, doi. 10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V
By:
- Olufemi, Shodimu-Emmanuel;
- Green, Jane S.;
- Manickam, Pachiappan;
- Guru, Siradanahalli C.;
- Agarwal, Sunita K.;
- Kester, Mary Beth;
- Dong, Qihan;
- Burns, A. Lee;
- Spiegel, Allen M.;
- Marx, Stephen J.;
- Collins, Francis S.;
- Chandrasekharappa, Settara C.
Publication type:
Article
Identification of a splice site mutation (2789+5 G>A) associated with small amounts of normal CFTRmRNA and mild cystic fibrosis.
Published in:
Human Mutation, 1997, v. 9, n. 4, p. 332, doi. 10.1002/(SICI)1098-1004(1997)9:4<332::AID-HUMU5>3.0.CO;2-7
By:
- Highsmith, W. Edward;
- Burch, Lauranell H.;
- Zhou, Zhaoqing;
- Olsen, John C.;
- Strong, Theresa V.;
- Smith, Terry;
- Friedman, Kenneth J.;
- Silverman, Lawrence M.;
- Boucher, Richard C.;
- Collins, Francis S.;
- Knowles, Michael R.
Publication type:
Article
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
Published in:
Human Mutation, 1996, v. 7, n. 2, p. 151, doi. 10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.0.CO;2-1
By:
- Nasr, Samya Z.;
- Strong, Theresa V.;
- Mansoura, Monique K.;
- Dawson, David C.;
- Collins, Francis S.
Publication type:
Article
An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.
Published in:
Human Mutation, 1993, v. 2, n. 2, p. 148, doi. 10.1002/humu.1380020217
By:
- Smit, Lisa S.;
- Nasr, Samya Z.;
- Iannuzzi, Michael C.;
- Collins, Francis S.
Publication type:
Article
Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Published in:
Human Mutation, 1992, v. 1, n. 5, p. 380, doi. 10.1002/humu.1380010506
By:
- Strong, Theresa V.;
- Smit, Lisa S.;
- Nasr, Samya;
- Wood, Deborah L.;
- Cole, Jeffrey L.;
- Iannuzzi, Michael C.;
- Stern, Robert C.;
- Collins, Francis S.
Publication type:
Article
Human Genome Project: Twenty-five years of big biology.
Published in:
2015
By:
- Green, Eric D.;
- Watson, James D.;
- Collins, Francis S.
Publication type:
Opinion
Super-enhancers delineate disease-associated regulatory nodes in T cells.
Published in:
Nature, 2015, v. 520, n. 7548, p. 558, doi. 10.1038/nature14154
By:
- Vahedi, Golnaz;
- Kanno, Yuka;
- Furumoto, Yasuko;
- Jiang, Kan;
- Parker, Stephen C. J.;
- Erdos, Michael R.;
- Davis, Sean R.;
- Roychoudhuri, Rahul;
- Restifo, Nicholas P.;
- Gadina, Massimo;
- Tang, Zhonghui;
- Ruan, Yijun;
- Collins, Francis S.;
- Sartorelli, Vittorio;
- O'Shea, John J.
Publication type:
Article
NIH to balance sex in cell and animal studies.
Published in:
Nature, 2014, v. 509, n. 7500, p. 282, doi. 10.1038/509282a
By:
- Clayton, Janine A.;
- Collins, Francis S.
Publication type:
Article
NIH plans to enhance reproducibility.
Published in:
Nature, 2014, v. 505, n. 7485, p. 612, doi. 10.1038/505612a
By:
- Collins, Francis S.;
- Tabak, Lawrence A.
Publication type:
Article
Biospecimen policy: Family matters.
Published in:
Nature, 2013, v. 500, n. 7461, p. 141, doi. 10.1038/500141a
By:
- Hudson, Kathy L.;
- Collins, Francis S.
Publication type:
Article
Progeria: Translational insights from cell biology.
Published in:
Journal of Cell Biology, 2012, v. 199, n. 1, p. 9, doi. 10.1083/jcb.201207072
By:
- Gordon, Leslie B.;
- Cao, Kan;
- Collins, Francis S.
Publication type:
Article
Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 24, p. 4161, doi. 10.1093/hmg/ddz263
By:
- Wu, Ying;
- Broadaway, K Alaine;
- Raulerson, Chelsea K;
- Scott, Laura J;
- Pan, Calvin;
- Ko, Arthur;
- He, Aiqing;
- Tilford, Charles;
- Fuchsberger, Christian;
- Locke, Adam E;
- Stringham, Heather M;
- Jackson, Anne U;
- Narisu, Narisu;
- Kuusisto, Johanna;
- Pajukanta, Päivi;
- Collins, Francis S;
- Boehnke, Michael;
- Laakso, Markku;
- Lusis, Aldons J;
- Civelek, Mete
Publication type:
Article
Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S43 locus.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 3, p. 215
By:
- Tagle, Danilo A.;
- Blanchard-McQuate, Kristina L.;
- Collins, Francis S.
Publication type:
Article
An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 2, p. 121
By:
- Tagle, Danilo A.;
- Collins, Francis S.
Publication type:
Article
The Human Genome Project.
Published in:
Cancer (0008543X), 2001, v. 91, n. S1, p. 221, doi. 10.1002/1097-0142(20010101)91:1+<221::AID-CNCR8>3.0.CO;2-9
By:
- Collins, Francis S.;
- Mansoura, Monique K.
Publication type:
Article
A HapMap harvest of insights into the genetics of common disease.
Published in:
2008
By:
- Manolio, Teri A.;
- Brooks, Lisa D.;
- Collins, Francis S.
Publication type:
journal article
Response to: "Rescuing the NIH before it is too late".
Published in:
2006
By:
- Alexander, Duane F.;
- Alving, Barbara M.;
- Battey, Jr., James F.;
- Berg, Jeremy M.;
- Collins, Francis S.;
- Fauci, Anthony S.;
- Gallin, John I.;
- Grady, Patricia A.;
- Hodes, Richard J.;
- Hrynkow, Sharon H.;
- Insel, Thomas R.;
- Jones, Jack F.;
- Katz, Stephen I.;
- Landis, Story C.;
- Ting-Kai Li;
- Lindberg, Donald A.;
- Nabel, Elizabeth G.;
- Niederhuber, John E.;
- Pettigrew, Roderic I.;
- Rodgers, Griffin P.
Publication type:
commentary
Household Air Pollution in Low- and Middle-Income Countries: Health Risks and Research Priorities.
Published in:
PLoS Medicine, 2013, v. 10, n. 6, p. 1, doi. 10.1371/journal.pmed.1001455
By:
- Martin II, William J.;
- Glass, Roger I.;
- Araj, Houmam;
- Balbus, John;
- Collins, Francis S.;
- Curtis, Siân;
- Diette, Gregory B.;
- Elwood, William N.;
- Falk, Henry;
- Hibberd, Patricia L.;
- Keown, Susan E. J.;
- Mehta, Sumi;
- Patrick, Erin;
- Rosenbaum, Julia;
- Sapkota, Amir;
- Tolunay, H. Eser;
- Bruce, Nigel G.
Publication type:
Article
Single-Minded Research Review: The Common Rule and Single IRB Policy.
Published in:
American Journal of Bioethics, 2017, v. 17, n. 7, p. 34, doi. 10.1080/15265161.2017.1328542
By:
- Wolinetz, Carrie D.;
- Collins, Francis S.
Publication type:
Article
Design of modified oligodeoxyribonucleotide probes to detect telomere repeat sequences in FISH assays.
Published in:
Nucleic Acids Research, 1999, v. 27, n. 20, p. 4034, doi. 10.1093/nar/27.20.4034
By:
- Hacia, Joseph G.;
- Novotny, Elizabeth A.;
- Mayer, R. Aeryn;
- Woski, Stephen A.;
- Ashlock, Melissa A.;
- Collins, Francis S.;
- Colgin, L.M.;
- Reddel, R.R.;
- von Zglinicki, T.;
- de la Sena, C.;
- Lejnine, S.;
- Zakian, V.A.;
- Muniyappa, K.;
- Moyzis, R.K.;
- Makarov, V.L.;
- Griffith, J.D.;
- Verma, S.;
- Hacia, J.G.;
- Froehler, B.C.;
- Guitierrez, A.J.
Publication type:
Article
Science Visioning in Minority Health and Health Disparities.
Published in:
American Journal of Public Health, 2019, v. 109, p. S5, doi. 10.2105/AJPH.2019.304962
By:
- Pérez-Stable, Eliseo J.;
- Collins, Francis S.
Publication type:
Article
Realizing the Promise of Genomics in Biomedical Research.
Published in:
2005
By:
- Guttmacher, Alan E.;
- Collins, Francis S.
Publication type:
Editorial
Genetics Moves Into the Medical Mainstream.
Published in:
2001
By:
- Collins, Francis S.;
- Guttmacher, Alan E.
Publication type:
Editorial
LETTERS.
Published in:
2001
By:
- Komanoff, Charles;
- Li, Guohua;
- Baker, Susan P.;
- Sargent, James;
- Dalton, Madeline;
- Schwartz, Lisa;
- Kramer, Michael S.;
- Khoury, Muin J.;
- Beskow, Laura;
- Gwinn, Marta L.;
- Collins, Francis S.;
- McKusick, Victor A.;
- Clarke, Robin P.;
- Hendrie, Hugh C.;
- Hall, Kathleen S.;
- Gao, Sujuan;
- Ogunniyi, Adesola;
- Dixon, Jerome A.;
- Richardson, Peter D.;
- FitzGerald, Garret A.
Publication type:
Letter
Implications of the Human Genome Project for Medical Science.
Published in:
JAMA: Journal of the American Medical Association, 2001, v. 285, n. 5, p. 540, doi. 10.1001/jama.285.5.540
By:
- Collins, Francis S.;
- McKusick, Victor A.
Publication type:
Article
Familial breast cancer. Approaching the isolation of a susceptibility gene.
Published in:
Cancer (0008543X), 1994, v. 74, n. S3, p. 1013, doi. 10.1002/1097-0142(19940801)74:3+<1013::AID-CNCR2820741507>3.0.CO;2-#
By:
- Weber, Barbara L.;
- Abel, Kenneth J.;
- Brody, Larry C.;
- Flejter, Wendy L.;
- Chandrasekharappa, Settara C.;
- Couch, Fergus J.;
- Merajver, Sofia D.;
- Collins, Francis S.
Publication type:
Article
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.
Published in:
International Journal of Environmental Research & Public Health, 2024, v. 21, n. 5, p. 615, doi. 10.3390/ijerph21050615
By:
- Liberton, Denise K.;
- Almpani, Konstantinia;
- Mishra, Rashmi;
- Bassim, Carol;
- Van Ryzin, Carol;
- Webb, Bryn D.;
- Jabs, Ethylin Wang;
- Engle, Elizabeth C.;
- Collins, Francis S.;
- Manoli, Irini;
- Lee, Janice S.
Publication type:
Article
Multiple Imputation of Missing Phenotype Data for QTL Mapping.
Published in:
Statistical Applications in Genetics & Molecular Biology, 2011, v. 10, n. 1, p. 1, doi. 10.2202/1544-6115.1676
By:
- Bobb, Jennifer F.;
- Scharfstein, Daniel O.;
- Daniels, Michael J.;
- Collins, Francis S.;
- Kelada, Samir
Publication type:
Article
KAREN ROTHENBERG'S (NOT SO) SECRET ROLES AND CONTRIBUTIONS AT THE U.S. NATIONAL INSTITUTES OF HEALTH.
Published in:
Journal of Health Care Law & Policy, 2020, v. 22, p. 167
By:
- BERKMAN, BENJAMIN E.;
- BRODY, LAWRENCE C.;
- COLLINS, FRANCIS S.;
- GREEN, ERIC D.
Publication type:
Article
A march of genetic maps.
Published in:
Nature, 1996, v. 380, n. 6570, p. 111, doi. 10.1038/380111a0
By:
- Jordan, Elke;
- Collins, Francis S.
Publication type:
Article
Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 13, p. 2098, doi. 10.1093/hmg/ddl133
By:
- Bernat, John A.;
- Crawford, Gregory E.;
- Ogurtsov, Aleksey Y.;
- Collins, Francis S.;
- Ginsburg, David;
- Kondrashov, Alexey S.
Publication type:
Article
Identification of MEN1 Gene Mutations in Sporadic Carcinoid Tumors of the Lung.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 13, p. 2285, doi. 10.1093/hmg/6.13.2285
By:
- Debelenko, Larisa V.;
- Brambilla, Elisabeth;
- Agarwal, Sunita K.;
- Swalwell, Jennifer I.;
- Kester, Mary B.;
- Lubensky, Irina A.;
- Zhuang, Zhengping;
- Guru, Siradanahalli C.;
- Manickam, Pachiappan;
- Olufemi, Shodimu-Emmanuel;
- Chandrasekharappa, Settara C.;
- Crabtree, Judy S.;
- Kim, Young S.;
- Heppner, Christina;
- Burns, A. Lee;
- Spiegel, Allen M.;
- Marx, Stephen J.;
- Liotta, Lance A.;
- Collins, Francis S.;
- Travis, William D.
Publication type:
Article
Germline Mutations of the MEN1 Gene in Familial Multiple Endocrine Neoplasia Type 1 and Related States.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 7, p. 1169, doi. 10.1093/hmg/6.7.1169
By:
- Agarwal, Sunita K.;
- Beth Kester, Mary;
- Debelenko, Larisa V.;
- Heppner, Christina;
- Emmert-Buck, Michael R.;
- Skarulis, Monica C.;
- Doppman, John L.;
- Kim, Young S.;
- Lubensky, Irina A.;
- Zhuang, Zhengping;
- Green, Jane S.;
- Guru, Sirandanahalli C.;
- Manickam, Pachiappan;
- Olufemi, Shodimu-Emmanuel;
- Liotta, Lance A.;
- Chandrasekharappa, Settara C.;
- Collins, Francis S.;
- Spiegel, Allen M.;
- Lee Burns, A.;
- Marx, Stephen J.
Publication type:
Article
KVLQT1 Mutations in Three Families with Familial or Sporadic Long QT Syndrome.
Published in:
Human Molecular Genetics, 1996, v. 5, n. 9, p. 1319, doi. 10.1093/hmg/5.9.1319
By:
- Russell, Mark W.;
- Dick, Macdonald;
- Collins, Francis S.;
- Brody, Lawrence C.
Publication type:
Article