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