Works matching AU Collins, Francis S.

Results: 179

Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database.

Published in:

Genetic Epidemiology, 2006, v. 30, n. 2, p. 180, doi. 10.1002/gepi.20131

By:

Cristen J. Willer;
Laura J. Scott;
Lori L. Bonnycastle;
Anne U. Jackson;
Peter Chines;
Randall Pruim;
Craig W. Bark;
Ya‐Yu Tsai;
Elizabeth W. Pugh;
Kimberly F. Doheny;
Leena Kinnunen;
Karen L. Mohlke;
Timo T. Valle;
Richard N. Bergman;
Jaakko Tuomilehto;
Francis S. Collins;
Michael Boehnke

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

A point mutation in the <sup>A</sup>γ-globin gene promoter in Greek hereditary persistence of fetal haemoglobin.

Published in:

Nature, 1985, v. 313, n. 6000, p. 325, doi. 10.1038/313325a0

By:

Collins, Francis S.;
Metherall, James E.;
Yamakawa, Minoru;
Pan, Julian;
Weissman, Sherman M.;
Forget, Bernard G.

Publication type:

Article

Roundtable: The Human Genome Project.

Published in:

Issues in Science & Technology, 1993, v. 10, n. 1, p. 43

By:

Brown, Michael S.;
Collins, Francis S.

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

What we do and don't know about 'race', 'ethnicity', genetics and health at the dawn of the genome era.

Published in:

Nature Genetics, 2004, v. 36, p. S13, doi. 10.1038/ng1436

By:

Collins, Francis S

Publication type:

Article

The Knockout Mouse Project.

Published in:

Nature Genetics, 2004, v. 36, n. 9, p. 921, doi. 10.1038/ng0904-921

By:

Austin, Christopher P.;
Battey, James F.;
Bradley, Allan;
Bucan, Maja;
Capecchi, Mario;
Collins, Francis S.;
Dove, William F.;
Duyk, Geoffrey;
Dymecki, Susan;
Eppig, Janan T.;
Grieder, Franziska B.;
Heintz, Nathaniel;
Hicks, Geoff;
Insel, Thomas R.;
Joyner, Alexandra;
Koller, Beverly H.;
Lloyd, K. C. Kent;
Magnuson, Terry;
Moore, Mark W.;
Nagy, Andras

Publication type:

Article

Power to the people.

Published in:

Nature Genetics, 2003, v. 35, p. 2, doi. 10.1038/ng1185

By:

Baxevanis, Andreas D.;
Collins, Francis S.

Publication type:

Article

A user's guide to the human genome.

Published in:

Nature Genetics, 2003, v. 35, p. 4, doi. 10.1038/ng1187

By:

Wolfsberg, Tyra G.;
Wetterstrand, Kris A.;
Guyer, Mark S.;
Collins, Francis S.;
Bexevanis, Andreas D.

Publication type:

Article

Power to the people.

Published in:

Nature Genetics, 2002, v. 32, p. 2, doi. 10.1038/ng962

By:

Baxevanis, Andreas D.;
Collins, Francis S.

Publication type:

Article

A user's guide to the human genome.

Published in:

Nature Genetics, 2002, v. 32, p. 4, doi. 10.1038/ng964

By:

Wolfsberg, Tyra G.;
Wetterstrand, Kris A.;
Guyer, Mark S.;
Collins, Francis S.;
Baxevanis, Andreas D.

Publication type:

Article

Meiotic arrest and aneuploidy in MLH3-deficient mice.

Published in:

Nature Genetics, 2002, v. 31, n. 4, p. 385, doi. 10.1038/ng931

By:

Lipkin, Steven M.;
Moens, Peter B.;
Wang, Victoria;
Lenzi, Michelle;
Shanmugarajah, Dakshine;
Gilgeous, Abigail;
Thomas, James;
Cheng, Jun;
Touchman, Jeffrey W.;
Green, Eric D.;
Schwartzberg, Pam;
Collins, Francis S.;
Cohen, Paula E.

Publication type:

Article

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

Published in:

Nature Genetics, 2002, v. 31, n. 4, p. 435, doi. 10.1038/ng935

By:

Mykytyn, Kirk;
Nishimura, Darryl Y.;
Searby, Charles C.;
Shastri, Mythreyi;
Yen, Hsan-jan;
Beck, John S.;
Braun, Terry;
Streb, Luan M.;
Cornier, Alberto S.;
Cox, Gerald F.;
Fulton, Anne B.;
Carmi, Rivka;
Lüleci, Güven;
Chandrasekharappa, Settara C.;
Collins, Francis S.;
Jacobson, Samuel G.;
Heckenlively, John R.;
Weleber, Richard G.;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability.

Published in:

Nature Genetics, 2000, v. 24, n. 1, p. 27, doi. 10.1038/71643

By:

Lipkin, Steven M.;
Wang, Victoria;
Jacoby, Russell;
Banerjee-Basu, Sharmila;
Baxevanis, Andreas D.;
Lynch, Henry T.;
Elliott, Rosemary M.;
Collins, Francis S.

Publication type:

Article

Hip, hip, array: imagining genomics in the next millenium.

Published in:

1999

By:

Collins, Francis S.

Publication type:

Abstract

Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays.

Published in:

Nature Genetics, 1999, v. 22, n. 2, p. 164, doi. 10.1038/9674

By:

Hacia, Joseph G.;
Fan, Jian-Bing;
Ryder, Oliver;
Jin, Li;
Edgemon, Keith;
Ghandour, Ghassan;
Mayer, R. Aeryn;
Sun, Bryan;
Hsie, Linda;
Robbins, Christiane M.;
Brody, Lawrence C.;
Wang, David;
Lander, Eric S.;
Lipshutz, Robert;
Fodor, Stephen P.A.;
Collins, Francis S.

Publication type:

Article

Microarrays and macroconsequences.

Published in:

Nature Genetics, 1999, v. 21, p. 2, doi. 10.1038/4425

By:

Collins, Francis S

Publication type:

Article

The Parathyroid/Pituitary Variant of Multiple Endocrine Neoplasia Type 1 Usually Has Causes Other than p27<sup>Kip1</sup> Mutations.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 5, p. 1948, doi. 10.1210/jc.2006-2563

By:

Ozawa, Atsushi;
Agarwal, Sunita K.;
Mateo, Carmen M.;
Burns, A. Lee;
Rice, Terri S.;
Kennedy, Patricia A.;
Quigley, Caitlin M.;
Simonds, William F.;
Weinstein, Lee S.;
Chandrasekharappa, Settara C.;
Collins, Francis S.;
Spiegel, Allen M.;
Marx, Stephen J.

Publication type:

Article

Integrative Genetic Analysis of Allergic Inflammation in the Murine Lung.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2014, v. 51, n. 3, p. 436, doi. 10.1165/rcmb.2013-0501OC

By:

Kelada, Samir N. P.;
Carpenter, Danielle E.;
Aylor, David L.;
Chines, Peter;
Rutledge, Holly;
Chesler, Elissa J.;
Churchill, Gary A.;
Pardo-Manuel de Villena, Fernando;
Schwartz, David A.;
Collins, Francis S.

Publication type:

Article

A Drosophila functional evaluation of candidates from human genome-wide association studies of type 2 diabetes and related metabolic traits identifies tissue-specific roles for dHHEX.

Published in:

BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-136

By:

Pendse, Jay;
Ramachandran, Prasanna V.;
Jianbo Na;
Narisu, Narisu;
Fink, Jill L.;
Cagan, Ross L.;
Collins, Francis S.;
Baranski, Thomas J.

Publication type:

Article

MEN1 gene mutation analysis of high-grade neuroendocrine lung carcinoma.

Published in:

Genes, Chromosomes & Cancer, 2000, v. 28, n. 1, p. 58, doi. 10.1002/(SICI)1098-2264(200005)28:1<58::AID-GCC7>3.0.CO;2-2

By:

Debelenko, Larisa V.;
Swalwell, Jennifer I.;
Kelley, Michael J.;
Brambilla, Elisabeth;
Manickam, Pachiappan;
Baibakov, Galina;
Agarwal, Sunita K.;
Spiegel, Allen M.;
Marx, Stephen J.;
Chandrasekharappa, Settara C.;
Collins, Francis S.;
Travis, William D.;
Emmert-Buck, Michael R.

Publication type:

Article

Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells.

Published in:

Genes, Chromosomes & Cancer, 1996, v. 16, n. 2, p. 77, doi. 10.1002/(SICI)1098-2264(199606)16:2<77::AID-GCC1>3.0.CO;2-#

By:

Liu, P. Paul;
Wijmenga, Cisca;
Hajra, Amitav;
Blake, Trevor B.;
Kelley, Christine A.;
Adelstein, Robert S.;
Bagg, Adam;
Rector, James;
Cotelingam, James;
Willman, Cheryl L.;
Collins, Francis S.

Publication type:

Article

Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I.

Published in:

Genes, Chromosomes & Cancer, 1994, v. 10, n. 1, p. 55, doi. 10.1002/gcc.2870100109

By:

Gutmann, David H.;
Cole, Jeffery L.;
Stone, William J.;
Ponder, Bruce A. J.;
Collins, Francis S.

Publication type:

Article

The human NME2 gene lies within 18kb of NME1 in chromosome 17.

Published in:

Genes, Chromosomes & Cancer, 1993, v. 6, n. 4, p. 245, doi. 10.1002/gcc.2870060411

By:

Chandrasekharappa, Settara C.;
Gross, Laura A.;
King, Stephanie E.;
Collins, Francis S.

Publication type:

Article

A chromosome jump crosses a translocation breakpoint in the von recklinghausen neurofibromatosis region.

Published in:

Genes, Chromosomes & Cancer, 1990, v. 2, n. 4, p. 271, doi. 10.1002/gcc.2870020404

By:

Wallace, Margaret R.;
Andersen, Lone B.;
Fountain, Jane W.;
Odeh, Hana M.;
Viskochil, David;
Marchuk, Douglas A.;
O'Connell, Peter;
White, Ray;
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

Angiopoietin‐2 reverses endothelial cell dysfunction in progeria vasculature.

Published in:

Aging Cell, 2025, v. 24, n. 2, p. 1, doi. 10.1111/acel.14375

By:

Vakili, Sahar;
Izydore, Elizabeth K.;
Losert, Leonhard;
Cabral, Wayne A.;
Tavarez, Urraca L.;
Shores, Kevin;
Xue, Huijing;
Erdos, Michael R.;
Truskey, George A.;
Collins, Francis S.;
Cao, Kan

Publication type:

Article

Bone dysplasia in Hutchinson‐Gilford progeria syndrome is associated with dysregulated differentiation and function of bone cell populations.

Published in:

Aging Cell, 2023, v. 22, n. 9, p. 1, doi. 10.1111/acel.13903

By:

Cabral, Wayne A.;
Stephan, Chris;
Terajima, Masahiko;
Thaivalappil, Abhirami A.;
Blanchard, Owen;
Tavarez, Urraca L.;
Narisu, Narisu;
Yan, Tingfen;
Wincovitch, Stephen M.;
Taga, Yuki;
Yamauchi, Mitsuo;
Kozloff, Kenneth M.;
Erdos, Michael R.;
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

Motif signatures in stretch enhancers are enriched for disease-associated genetic variants.

Published in:

Epigenetics & Chromatin, 2015, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13072-015-0015-7

By:

Quang, Daniel X;
Erdos, Michael R;
Parker, Stephen C J;
Collins, Francis S

Publication type:

Article

Motif signatures in stretch enhancers are enriched for disease-associated genetic variants.

Published in:

Epigenetics & Chromatin, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13072-015-0015-7

By:

Daniel X. Quang;
Erdos, Michael R.;
Parker, Stephen C. J.;
Collins, Francis S.

Publication type:

Article

A Panel of Diverse Assays to Interrogate the Interaction between Glucokinase and Glucokinase Regulatory Protein, Two Vital Proteins in Human Disease.

Published in:

PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089335

By:

Rees, Matthew G.;
Davis, Mindy I.;
Shen, Min;
Titus, Steve;
Raimondo, Anne;
Barrett, Amy;
Gloyn, Anna L.;
Collins, Francis S.;
Simeonov, Anton

Publication type:

Article

Alternative Splicing of TCF7L2 Gene in Omental and Subcutaneous Adipose Tissue and Risk of Type 2 Diabetes.

Published in:

PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0007231

By:

Prokunina-Olsson, Ludmila;
Kaplan, Lee M.;
Schadt, Eric E.;
Collins, Francis S.

Publication type:

Article

Variation in resistin gene promoter not associated with polycystic ovary syndrome.

Published in:

2003

By:

Urbanek, Margrit;
Du, Yangzhu;
Silander, Kaisa;
Collins, Francis S;
Steppan, Claire M;
Strauss, Jerome F 3rd;
Dunaif, Andrea;
Spielman, Richard S;
Legro, Richard S

Publication type:

journal article

Brief Genetics Report/ Variation in Resistin Gene Promoter Not Associated With Polycystic Ovary Syndrome.

Published in:

Diabetes, 2003, v. 52, n. 1, p. 214, doi. 10.2337/diabetes.52.1.214

By:

Urbanek, Margrit;
Du, Yangzhu;
Yangzhu Du;
Silander, Kaisa;
Collins, Francis S.;
Steppan, Claire M.;
Strauss III, Jerome F.;
Dunaif, Andrea;
Spielman, Richard S.;
Legro, Richard S.

Publication type:

Article

Variation in three single nucleotide polymorphisms in the calpain-10 gene not associated with type 2 diabetes in a large Finnish cohort.

Published in:

2002

By:

Fingerlin, Tasha E.;
Erdos, Michael R.;
Watanabe, Richard M.;
Wiles, Kerry R.;
Stringham, Heather M.;
Mohlke, Karen L.;
Silander, Kaisa;
Valle, Timo T.;
Buchanan, Thomas A.;
Tuomilehto, Jaakko;
Bergman, Richard N.;
Boehnke, Michael;
Collins, Francis S.

Publication type:

journal article

The peroxisome proliferator-activated receptor-gamma2 Pro12A1a variant: association with type 2 diabetes and trait differences.

Published in:

2001

By:

Douglas, Julie A.;
Erdos, Michael R.;
Watanabe, Richard M.;
Braun, Andi;
Johnston, Cristy L.;
Oeth, Paul;
Mohlke, Karen L.;
Valle, Timo T.;
Ehnholm, Christian;
Buchanan, Thomas A.;
Bergman, Richard N.;
Collins, Francis S.;
Boehnke, Michael;
Douglas, J A;
Erdos, M R;
Watanabe, R M;
Braun, A;
Johnston, C L;
Oeth, P;
Mohlke, K L

Publication type:

journal article

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

Human genes: The map takes shape.

Published in:

Patient Care (Print), 1994, v. 28, n. 1, p. 28

By:

Caskey, C. Thomas;
Collins, Francis S.

Publication type:

Article

Single-cell transcriptomic profiling of human pancreatic islets reveals genes responsive to glucose exposure over 24 h.

Published in:

Diabetologia, 2024, v. 67, n. 10, p. 2246, doi. 10.1007/s00125-024-06214-4

By:

Grenko, Caleb M.;
Taylor, Henry J.;
Bonnycastle, Lori L.;
Xue, Dongxiang;
Lee, Brian N.;
Weiss, Zoe;
Yan, Tingfen;
Swift, Amy J.;
Mansell, Erin C.;
Lee, Angela;
Robertson, Catherine C.;
Narisu, Narisu;
Erdos, Michael R.;
Chen, Shuibing;
Collins, Francis S.;
Taylor, D. Leland

Publication type:

Article

PCORnet: turning a dream into reality.

Published in:

2014

By:

Collins, Francis S.;
Hudson, Kathy L.;
Briggs, Josephine P.;
Lauer, Michael S.

Publication type:

Editorial

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

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5570, doi. 10.1093/hmg/ddu269

By:

Rees, Matthew G.;
Raimondo, Anne;
Wang, Jian;
Ban, Matthew R.;
Davis, Mindy I.;
Barrett, Amy;
Ranft, Jessica;
Jagdhuhn, David;
Waterstradt, Rica;
Baltrusch, Simone;
Simeonov, Anton;
Collins, Francis S.;
Hegele, Robert A.;
Gloyn, Anna L.

Publication type:

Article

Sound Health: An NIH-Kennedy Center Initiative to Explore Music and the Mind.

Published in:

2017

By:

Collins, Francis S.;
Fleming, Renée

Publication type:

journal article

Toward a New Era of Trust and Transparency in Clinical Trials.

Published in:

2016

By:

Hudson, Kathy L.;
Lauer, Michael S.;
Collins, Francis S.

Publication type:

journal article

Sharing and Reporting the Results of Clinical Trials.

Published in:

2015

By:

Hudson, Kathy L.;
Collins, Francis S.

Publication type:

Opinion

Exceptional opportunities in medical science: a view from the National Institutes of Health.

Published in:

2015

By:

Collins, Francis S

Publication type:

journal article