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1.

Precision medicine in 2030-seven ways to transform healthcare.

Denny, Joshua C; Collins, Francis S.

Cell; 184(6): 1415-1419, 2021 Mar 18.

Artículo en Inglés | MEDLINE | ID: mdl-33740447

2.

In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.

Koblan, Luke W; Erdos, Michael R; Wilson, Christopher; Cabral, Wayne A; Levy, Jonathan M; Xiong, Zheng-Mei; Tavarez, Urraca L; Davison, Lindsay M; Gete, Yantenew G; Mao, Xiaojing; Newby, Gregory A; Doherty, Sean P; Narisu, Narisu; Sheng, Quanhu; Krilow, Chad; Lin, Charles Y; Gordon, Leslie B; Cao, Kan; Collins, Francis S; Brown, Jonathan D; Liu, David R.

Nature; 589(7843): 608-614, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-33408413

3.

Evaluation of musculoskeletal phenotype of the G608G progeria mouse model with lonafarnib, pravastatin, and zoledronic acid as treatment groups.

Cubria, Maria B; Suarez, Sebastian; Masoudi, Aidin; Oftadeh, Ramin; Kamalapathy, Pramod; DuBose, Amanda; Erdos, Michael R; Cabral, Wayne A; Karim, Lamya; Collins, Francis S; Snyder, Brian D; Nazarian, Ara.

Proc Natl Acad Sci U S A; 117(22): 12029-12040, 2020 06 02.

Artículo en Inglés | MEDLINE | ID: mdl-32404427

4.

Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences.

Spracklen, Cassandra N; Iyengar, Apoorva K; Vadlamudi, Swarooparani; Raulerson, Chelsea K; Jackson, Anne U; Brotman, Sarah M; Wu, Ying; Cannon, Maren E; Davis, James P; Crain, Aaron T; Currin, Kevin W; Perrin, Hannah J; Narisu, Narisu; Stringham, Heather M; Fuchsberger, Christian; Locke, Adam E; Welch, Ryan P; Kuusisto, Johanna K; Pajukanta, Päivi; Scott, Laura J; Li, Yun; Collins, Francis S; Boehnke, Michael; Laakso, Markku; Mohlke, Karen L.

PLoS Genet; 16(9): e1009019, 2020 09.

Artículo en Inglés | MEDLINE | ID: mdl-32915782

5.

The knockout mouse project.

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; Pollock, Jonathan D; Roses, Allen D; Sands, Arthur T; Seed, Brian; Skarnes, William C; Snoddy, Jay; Soriano, Philippe; Stewart, David J; Stewart, Francis; Stillman, Bruce; Varmus, Harold; Varticovski, Lyuba; Verma, Inder M; Vogt, Thomas F; von Melchner, Harald; Witkowski, Jan; Woychik, Richard P; Wurst, Wolfgang; Yancopoulos, George D; Young, Stephen G; Zambrowicz, Brian.

Nat Genet; 36(9): 921-4, 2004 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-15340423

6.

Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits.

Raulerson, Chelsea K; Ko, Arthur; Kidd, John C; Currin, Kevin W; Brotman, Sarah M; Cannon, Maren E; Wu, Ying; Spracklen, Cassandra N; Jackson, Anne U; Stringham, Heather M; Welch, Ryan P; Fuchsberger, Christian; Locke, Adam E; Narisu, Narisu; Lusis, Aldons J; Civelek, Mete; Furey, Terrence S; Kuusisto, Johanna; Collins, Francis S; Boehnke, Michael; Scott, Laura J; Lin, Dan-Yu; Love, Michael I; Laakso, Markku; Pajukanta, Päivi; Mohlke, Karen L.

Am J Hum Genet; 105(4): 773-787, 2019 10 03.

Artículo en Inglés | MEDLINE | ID: mdl-31564431

7.

Transient induction of telomerase expression mediates senescence and reduces tumorigenesis in primary fibroblasts.

Sun, Linlin; Chiang, Jeffrey Y; Choi, Ji Young; Xiong, Zheng-Mei; Mao, Xiaojing; Collins, Francis S; Hodes, Richard J; Cao, Kan.

Proc Natl Acad Sci U S A; 116(38): 18983-18993, 2019 09 17.

Artículo en Inglés | MEDLINE | ID: mdl-31481614

8.

Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle.

Taylor, D Leland; Jackson, Anne U; Narisu, Narisu; Hemani, Gibran; Erdos, Michael R; Chines, Peter S; Swift, Amy; Idol, Jackie; Didion, John P; Welch, Ryan P; Kinnunen, Leena; Saramies, Jouko; Lakka, Timo A; Laakso, Markku; Tuomilehto, Jaakko; Parker, Stephen C J; Koistinen, Heikki A; Davey Smith, George; Boehnke, Michael; Scott, Laura J; Birney, Ewan; Collins, Francis S.

Proc Natl Acad Sci U S A; 116(22): 10883-10888, 2019 05 28.

Artículo en Inglés | MEDLINE | ID: mdl-31076557

9.

Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution.

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; Mohlke, Karen L.

Hum Mol Genet; 28(24): 4161-4172, 2019 12 15.

Artículo en Inglés | MEDLINE | ID: mdl-31691812

10.

A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression.

Kycia, Ina; Wolford, Brooke N; Huyghe, Jeroen R; Fuchsberger, Christian; Vadlamudi, Swarooparani; Kursawe, Romy; Welch, Ryan P; Albanus, Ricardo d'Oliveira; Uyar, Asli; Khetan, Shubham; Lawlor, Nathan; Bolisetty, Mohan; Mathur, Anubhuti; Kuusisto, Johanna; Laakso, Markku; Ucar, Duygu; Mohlke, Karen L; Boehnke, Michael; Collins, Francis S; Parker, Stephen C J; Stitzel, Michael L.

Am J Hum Genet; 102(4): 620-635, 2018 04 05.

Artículo en Inglés | MEDLINE | ID: mdl-29625024

11.

Biotinylation by antibody recognition-a method for proximity labeling.

Bar, Daniel Z; Atkatsh, Kathleen; Tavarez, Urraca; Erdos, Michael R; Gruenbaum, Yosef; Collins, Francis S.

Nat Methods; 15(2): 127-133, 2018 02.

Artículo en Inglés | MEDLINE | ID: mdl-29256494

12.

Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites.

Cohen, Jeffrey I; Manoli, Irini; Dowdell, Kennichi; Krogmann, Tammy A; Tamura, Deborah; Radecki, Pierce; Bu, Wei; Turk, Siu-Ping; Liepshutz, Kelly; Hornung, Ronald L; Fassihi, Hiva; Sarkany, Robert P; Bonnycastle, Lori L; Chines, Peter S; Swift, Amy J; Myers, Timothy G; Levoska, Melissa A; DiGiovanna, John J; Collins, Francis S; Kraemer, Kenneth H; Pittaluga, Stefania; Jaffe, Elaine S.

Blood; 133(26): 2753-2764, 2019 06 27.

Artículo en Inglés | MEDLINE | ID: mdl-31064750

13.

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.

Lehky, Tanya; Joseph, Reversa; Toro, Camilo; Wu, Tianxia; Van Ryzin, Carol; Gropman, Andrea; Facio, Flavia M; Webb, Bryn D; Jabs, Ethylin W; Barry, Brenda S; Engle, Elizabeth C; Collins, Francis S; Manoli, Irini.

Muscle Nerve; 63(4): 516-524, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33389762

14.

Super-enhancers delineate disease-associated regulatory nodes in T cells.

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.

Nature; 520(7548): 558-62, 2015 Apr 23.

Artículo en Inglés | MEDLINE | ID: mdl-25686607

15.

Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.

DuBose, Amanda J; Lichtenstein, Stephen T; Petrash, Noreen M; Erdos, Michael R; Gordon, Leslie B; Collins, Francis S.

Proc Natl Acad Sci U S A; 115(16): 4206-4211, 2018 04 17.

Artículo en Inglés | MEDLINE | ID: mdl-29581305

16.

Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study.

Teslovich, Tanya M; Kim, Daniel Seung; Yin, Xianyong; Stancáková, Alena; Jackson, Anne U; Wielscher, Matthias; Naj, Adam; Perry, John R B; Huyghe, Jeroen R; Stringham, Heather M; Davis, James P; Raulerson, Chelsea K; Welch, Ryan P; Fuchsberger, Christian; Locke, Adam E; Sim, Xueling; Chines, Peter S; Narisu, Narisu; Kangas, Antti J; Soininen, Pasi; Ala-Korpela, Mika; Gudnason, Vilmundur; Musani, Solomon K; Jarvelin, Marjo-Riitta; Schellenberg, Gerard D; Speliotes, Elizabeth K; Kuusisto, Johanna; Collins, Francis S; Boehnke, Michael; Laakso, Markku; Mohlke, Karen L.

Hum Mol Genet; 27(9): 1664-1674, 2018 05 01.

Artículo en Inglés | MEDLINE | ID: mdl-29481666

17.

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits.

Civelek, Mete; Wu, Ying; Pan, Calvin; Raulerson, Chelsea K; Ko, Arthur; He, Aiqing; Tilford, Charles; Saleem, Niyas K; Stancáková, Alena; Scott, Laura J; Fuchsberger, Christian; Stringham, Heather M; Jackson, Anne U; Narisu, Narisu; Chines, Peter S; Small, Kerrin S; Kuusisto, Johanna; Parks, Brian W; Pajukanta, Päivi; Kirchgessner, Todd; Collins, Francis S; Gargalovic, Peter S; Boehnke, Michael; Laakso, Markku; Mohlke, Karen L; Lusis, Aldons J.

Am J Hum Genet; 100(3): 428-443, 2017 Mar 02.

Artículo en Inglés | MEDLINE | ID: mdl-28257690

18.

NIH supports call for moratorium on clinical uses of germline gene editing.

Wolinetz, Carrie D; Collins, Francis S.

Nature; 567(7747): 175, 2019 03.

Artículo en Inglés | MEDLINE | ID: mdl-30867615

19.

Keeping up Africa's science momentum.

Eiss, Robert B; Collins, Francis S.

Nature; 572(7767): 32, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31363201

20.

Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

Davis, James P; Huyghe, Jeroen R; Locke, Adam E; Jackson, Anne U; Sim, Xueling; Stringham, Heather M; Teslovich, Tanya M; Welch, Ryan P; Fuchsberger, Christian; Narisu, Narisu; Chines, Peter S; Kangas, Antti J; Soininen, Pasi; Ala-Korpela, Mika; Kuusisto, Johanna; Collins, Francis S; Laakso, Markku; Boehnke, Michael; Mohlke, Karen L.

PLoS Genet; 13(10): e1007079, 2017 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-29084231

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