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Francis Sellers Collins - Publications

Affiliations: 
National Human Genome Research Institute, USA 
Area:
Human Genetics
Website:
https://www.genome.gov/10000779/
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Year Citation  Score
2023 Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, ... ... Collins FS, et al. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature Genetics. PMID 37386251 DOI: 10.1038/s41588-023-01424-9  0.535
2023 Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Rayner NW, Bocher O, Ana Luiza de SVA, Sonehara K, Namba S, Lee SSK, Preuss MH, ... ... Collins FS, et al. Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications. Medrxiv : the Preprint Server For Health Sciences. PMID 37034649 DOI: 10.1101/2023.03.31.23287839  0.465
2021 Denny JC, Collins FS. Precision medicine in 2030-seven ways to transform healthcare. Cell. 184: 1415-1419. PMID 33740447 DOI: 10.1016/j.cell.2021.01.015  0.43
2020 Spracklen CN, Iyengar AK, Vadlamudi S, Raulerson CK, Jackson AU, Brotman SM, Wu Y, Cannon ME, Davis JP, Crain AT, Currin KW, Perrin HJ, Narisu N, Stringham HM, Fuchsberger C, ... ... Collins FS, et al. Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences. Plos Genetics. 16: e1009019. PMID 32915782 DOI: 10.1371/Journal.Pgen.1009019  0.327
2020 Bonnycastle LL, Gildea DE, Yan T, Narisu N, Swift AJ, Wolfsberg TG, Erdos MR, Collins FS. Single-cell transcriptomics from human pancreatic islets: sample preparation matters. Biology Methods & Protocols. 5: bpz019. PMID 31984226 DOI: 10.1093/Biomethods/Bpz019  0.307
2019 Wu Y, Broadaway KA, Raulerson CK, Scott LJ, Pan C, Ko A, He A, Tilford C, Fuchsberger C, Locke AE, Stringham HM, Jackson AU, Narisu N, Kuusisto J, Pajukanta P, ... Collins FS, et al. Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution. Human Molecular Genetics. PMID 31691812 DOI: 10.1093/Hmg/Ddz263  0.302
2019 Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK, Lin K, Zhao JH, Deelen P, Rohde R, Schurmann C, Guo X, Giulianini F, ... ... Collins FS, et al. Associations of autozygosity with a broad range of human phenotypes. Nature Communications. 10: 4957. PMID 31673082 DOI: 10.1038/S41467-019-12283-6  0.731
2019 Raulerson CK, Ko A, Kidd JC, Currin KW, Brotman SM, Cannon ME, Wu Y, Spracklen CN, Jackson AU, Stringham HM, Welch RP, Fuchsberger C, Locke AE, Narisu N, Lusis AJ, ... ... Collins FS, et al. Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits. American Journal of Human Genetics. PMID 31564431 DOI: 10.1016/J.Ajhg.2019.09.001  0.372
2019 Adeyemo AA, Zaghloul NA, Chen G, Doumatey AP, Leitch CC, Hostelley TL, Nesmith JE, Zhou J, Bentley AR, Shriner D, Fasanmade O, Okafor G, Eghan B, Agyenim-Boateng K, Chandrasekharappa S, ... ... Collins F, et al. ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response. Nature Communications. 10: 3195. PMID 31324766 DOI: 10.1038/S41467-019-10967-7  0.344
2019 Sung YJ, de Las Fuentes L, Winkler TW, Chasman DI, Bentley AR, Kraja AT, Ntalla I, Warren HR, Guo X, Schwander K, Manning AK, Brown MR, Aschard H, Feitosa MF, Franceschini N, ... ... Collins FS, et al. A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. Human Molecular Genetics. PMID 31127295 DOI: 10.1093/Hmg/Ddz070  0.326
2019 Justice AE, Karaderi T, Highland HM, Young KL, Graff M, Lu Y, Turcot V, Auer PL, Fine RS, Guo X, Schurmann C, Lempradl A, Marouli E, Mahajan A, Winkler TW, ... ... Collins FS, et al. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nature Genetics. PMID 30778226 DOI: 10.1038/S41588-018-0334-2  0.324
2019 Lawlor N, Márquez EJ, Orchard P, Narisu N, Shamim MS, Thibodeau A, Varshney A, Kursawe R, Erdos MR, Kanke M, Gu H, Pak E, Dutra A, Russell S, Li X, ... ... Collins FS, et al. Multiomic Profiling Identifies cis-Regulatory Networks Underlying Human Pancreatic β Cell Identity and Function. Cell Reports. 26: 788-801.e6. PMID 30650367 DOI: 10.1016/J.Celrep.2018.12.083  0.318
2018 Mahajan A, Taliun D, Thurner M, Robertson NR, Torres JM, Rayner NW, Payne AJ, Steinthorsdottir V, Scott RA, Grarup N, Cook JP, Schmidt EM, Wuttke M, Sarnowski C, Mägi R, ... ... Collins FS, et al. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nature Genetics. PMID 30297969 DOI: 10.1038/S41588-018-0241-6  0.349
2018 Taylor DL, Knowles DA, Scott LJ, Ramirez AH, Casale FP, Wolford BN, Guan L, Varshney A, Albanus RD, Parker SCJ, Narisu N, Chines PS, Erdos MR, Welch RP, Kinnunen L, ... ... Collins FS, et al. Interactions between genetic variation and cellular environment in skeletal muscle gene expression. Plos One. 13: e0195788. PMID 29659628 DOI: 10.1371/Journal.Pone.0195788  0.587
2018 Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H, Taliun D, Rayner NW, Guo X, Lu Y, Li M, Jensen RA, Hu Y, ... ... Collins FS, et al. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nature Genetics. 50: 559-571. PMID 29632382 DOI: 10.1038/S41588-018-0084-1  0.323
2018 Kycia I, Wolford BN, Huyghe JR, Fuchsberger C, Vadlamudi S, Kursawe R, Welch RP, Albanus RD, Uyar A, Khetan S, Lawlor N, Bolisetty M, Mathur A, Kuusisto J, Laakso M, ... ... Collins FS, et al. A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression. American Journal of Human Genetics. 102: 620-635. PMID 29625024 DOI: 10.1016/J.Ajhg.2018.02.020  0.362
2018 Teslovich TM, Kim DS, Yin X, Stancáková A, Jackson AU, Wielscher M, Naj A, Perry JRB, Huyghe JR, Stringham HM, Davis JP, Raulerson CK, Welch RP, Fuchsberger C, Locke AE, ... ... Collins FS, et al. Identification of seven novel loci associated with amino acid levels using single variant and gene-based tests in 8,545 Finnish men from the METSIM study. Human Molecular Genetics. PMID 29481666 DOI: 10.1093/Hmg/Ddy067  0.324
2018 Sung YJ, Winkler TW, de Las Fuentes L, Bentley AR, Brown MR, Kraja AT, Schwander K, Ntalla I, Guo X, Franceschini N, Lu Y, Cheng CY, Sim X, Vojinovic D, Marten J, ... ... Collins FS, et al. A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. American Journal of Human Genetics. PMID 29455858 DOI: 10.1016/J.Ajhg.2018.01.015  0.349
2018 Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T, Giri A, Graff M, Guo X, Hendricks AE, Karaderi T, Lempradl A, Locke AE, ... ... Collins FS, et al. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics. 50: 26-41. PMID 29273807 DOI: 10.1038/S41588-017-0011-X  0.356
2017 Davis JP, Huyghe JR, Locke AE, Jackson AU, Sim X, Stringham HM, Teslovich TM, Welch RP, Fuchsberger C, Narisu N, Chines PS, Kangas AJ, Soininen P, Ala-Korpela M, Kuusisto J, ... Collins FS, et al. Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study. Plos Genetics. 13: e1007079. PMID 29084231 DOI: 10.1371/Journal.Pgen.1007079  0.343
2017 Cannon ME, Duan Q, Wu Y, Zeynalzadeh M, Xu Z, Kangas AJ, Soininen P, Ala-Korpela M, Civelek M, Lusis AJ, Kuusisto J, Collins FS, Boehnke M, Tang H, Laakso M, et al. Trans-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL8 HDL-C GWAS Locus. G3 (Bethesda, Md.). PMID 28754724 DOI: 10.1534/G3.117.300088  0.335
2017 Wain LV, Vaez A, Jansen R, Joehanes R, van der Most PJ, Erzurumluoglu AM, O'Reilly PF, Cabrera CP, Warren HR, Rose LM, Verwoert GC, Hottenga JJ, Strawbridge RJ, Esko T, Arking DE, ... ... Collins F, et al. Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension (Dallas, Tex. : 1979). PMID 28739976 DOI: 10.1161/Hypertensionaha.117.09438  0.328
2017 Roman TS, Cannon ME, Vadlamudi S, Buchkovich ML, Wolford BN, Welch RP, Morken MA, Kwon GJ, Varshney A, Kursawe R, Wu Y, Jackson AU, Erdos MR, Kuusisto J, ... ... Collins FS, et al. A Type 2 Diabetes-Associated Functional Regulatory Variant in a Pancreatic Islet Enhancer at the Adcy5 Locus. Diabetes. PMID 28684635 DOI: 10.2337/Db17-0464  0.34
2017 Scott RA, Scott LJ, Mägi R, Marullo L, Gaulton KJ, Kaakinen M, Pervjakova N, Pers TH, Johnson AD, Eicher JD, Jackson AU, Ferreira T, Lee Y, Ma C, Steinthorsdottir V, ... ... Collins FS, et al. An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. Diabetes. PMID 28566273 DOI: 10.2337/Db16-1253  0.359
2017 Graff M, Scott RA, Justice AE, Young KL, Feitosa MF, Barata L, Winkler TW, Chu AY, Mahajan A, Hadley D, Xue L, Workalemahu T, Heard-Costa NL, den Hoed M, Ahluwalia TS, ... ... Collins FS, et al. Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Plos Genetics. 13: e1006528. PMID 28448500 DOI: 10.1371/Journal.Pgen.1006528  0.308
2017 Justice AE, Winkler TW, Feitosa MF, Graff M, Fisher VA, Young K, Barata L, Deng X, Czajkowski J, Hadley D, Ngwa JS, Ahluwalia TS, Chu AY, Heard-Costa NL, Lim E, ... ... Collins FS, et al. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Nature Communications. 8: 14977. PMID 28443625 DOI: 10.1038/Ncomms14977  0.309
2017 Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, Cingolani P, Pers TH, Viñuela A, Brown AA, Wu Y, ... ... Collins FS, et al. A Low-Frequency Inactivating Akt2 Variant Enriched in the Finnish Population is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes. PMID 28341696 DOI: 10.2337/Db16-1329  0.321
2017 Civelek M, Wu Y, Pan C, Raulerson CK, Ko A, He A, Tilford C, Saleem NK, Stančáková A, Scott LJ, Fuchsberger C, Stringham HM, Jackson AU, Narisu N, Chines PS, ... ... Collins FS, et al. Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits. American Journal of Human Genetics. 100: 428-443. PMID 28257690 DOI: 10.1016/J.Ajhg.2017.01.027  0.38
2017 Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y, Schurmann C, Highland HM, Rüeger S, Thorleifsson G, Justice AE, Lamparter D, Stirrups KE, ... ... Collins FS, et al. Rare and low-frequency coding variants alter human adult height. Nature. PMID 28146470 DOI: 10.1038/Nature21039  0.357
2017 Laakso M, Kuusisto J, Stancakova A, Kuulasmaa T, Pajukanta P, Lusis AJ, Collins FS, Mohlke K, Boehnke M. METabolic Syndrome In Men (METSIM) Study: a resource for studies of metabolic and cardiovascular diseases. Journal of Lipid Research. PMID 28119442 DOI: 10.1194/Jlr.O072629  0.341
2016 Ried JS, Jeff M J, Chu AY, Bragg-Gresham JL, van Dongen J, Huffman JE, Ahluwalia TS, Cadby G, Eklund N, Eriksson J, Esko T, Feitosa MF, Goel A, Gorski M, Hayward C, ... ... Collins FS, et al. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nature Communications. 7: 13357. PMID 27876822 DOI: 10.1038/Ncomms13357  0.308
2016 Ehret GB, Ferreira T, Chasman DI, Jackson AU, Schmidt EM, Johnson T, Thorleifsson G, Luan J, Donnelly LA, Kanoni S, Petersen AK, Pihur V, Strawbridge RJ, Shungin D, Hughes MF, ... ... Collins FS, et al. The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Nature Genetics. PMID 27618452 DOI: 10.1038/Ng.3667  0.688
2016 Surendran P, Drenos F, Young R, Warren H, Cook JP, Manning AK, Grarup N, Sim X, Barnes DR, Witkowska K, Staley JR, Tragante V, Tukiainen T, Yaghootkar H, Masca N, ... ... Collins FS, et al. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. Nature Genetics. PMID 27618447 DOI: 10.1038/Ng.3654  0.305
2016 McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, ... ... Collins FS, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nature Genetics. PMID 27548312 DOI: 10.1038/Ng.3643  0.598
2016 Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JR, Sim X, Blackwell TW, Robertson NR, ... ... Collins FS, et al. The genetic architecture of type 2 diabetes. Nature. PMID 27398621 DOI: 10.1038/Nature18642  0.358
2016 Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, Czajkowski J, Esko T, Fall T, Kilpeläinen TO, Lu Y, Mägi R, Mihailov E, Pers TH, Rüeger S, ... ... Collins FS, et al. Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Plos Genetics. 12: e1006166. PMID 27355579 DOI: 10.1371/Journal.Pgen.1006166  0.667
2016 Scott LJ, Erdos MR, Huyghe JR, Welch RP, Beck AT, Wolford BN, Chines PS, Didion JP, Narisu N, Stringham HM, Taylor DL, Jackson AU, Vadlamudi S, Bonnycastle LL, Kinnunen L, ... ... Collins FS, et al. The genetic regulatory signature of type 2 diabetes in human skeletal muscle. Nature Communications. 7: 11764. PMID 27353450 DOI: 10.1038/Ncomms11764  0.529
2016 Kaloff C, Anastassiadis K, Ayadi A, Baldock R, Beig J, Birling M, Bradley A, Brown S, Bürger A, Bushell W, Chiani F, Collins F, Doe B, Eppig J, Finnell R, et al. Genome wide conditional mouse knockout resources Drug Discovery Today: Disease Models. 20: 3-12. DOI: 10.1016/J.Ddmod.2017.08.002  0.351
2015 Roman TS, Marvelle AF, Fogarty MP, Vadlamudi S, Gonzalez AJ, Buchkovich ML, Huyghe JR, Fuchsberger C, Jackson AU, Wu Y, Civelek M, Lusis AJ, Gaulton KJ, Sethupathy P, Kangas AJ, ... ... Collins FS, et al. Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol. American Journal of Human Genetics. 97: 801-15. PMID 26637976 DOI: 10.1016/J.Ajhg.2015.10.016  0.321
2015 Adeyemo AA, Tekola-Ayele F, Doumatey AP, Bentley AR, Chen G, Huang H, Zhou J, Shriner D, Fasanmade O, Okafor G, Eghan B, Agyenim-Boateng K, Adeleye J, Balogun W, Elkahloun A, ... ... Collins F, et al. Evaluation of Genome Wide Association Study Associated Type 2 Diabetes Susceptibility Loci in Sub Saharan Africans. Frontiers in Genetics. 6: 335. PMID 26635871 DOI: 10.3389/Fgene.2015.00335  0.337
2015 Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, Locke A, William Rayner N, Robertson N, Scott RA, Prokopenko I, Scott LJ, Green T, Sparso T, ... ... Collins FS, et al. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nature Genetics. PMID 26551672 DOI: 10.1038/Ng.3437  0.379
2015 Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, Czajkowski J, Esko T, Fall T, Kilpeläinen TO, Lu Y, Mägi R, Mihailov E, Pers TH, Rüeger S, ... ... Collins FS, et al. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Plos Genetics. 11: e1005378. PMID 26426971 DOI: 10.1371/Journal.Pgen.1005378  0.696
2015 Quang DX, Erdos MR, Parker SC, Collins FS. Motif signatures in stretch enhancers are enriched for disease-associated genetic variants. Epigenetics & Chromatin. 8: 23. PMID 26180553 DOI: 10.1186/S13072-015-0015-7  0.351
2015 Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, Okada Y, Stančáková A, Faul JD, Zhao W, Bartz TM, ... ... Collins FS, et al. Directional dominance on stature and cognition in diverse human populations. Nature. 523: 459-62. PMID 26131930 DOI: 10.1038/Nature14618  0.326
2015 Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, Croteau-Chonka DC, Esko T, Fall T, Ferreira T, Gustafsson S, ... ... Collins FS, et al. Genetic studies of body mass index yield new insights for obesity biology. Nature. 518: 197-206. PMID 25673413 DOI: 10.1038/Nature14177  0.687
2015 Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, Strawbridge RJ, Pers TH, Fischer K, Justice AE, Workalemahu T, Wu JM, Buchkovich ML, Heard-Costa NL, Roman TS, ... ... Collins FS, et al. New genetic loci link adipose and insulin biology to body fat distribution. Nature. 518: 187-96. PMID 25673412 DOI: 10.1038/Nature14132  0.703
2015 Mahajan A, Sim X, Ng HJ, Manning A, Rivas MA, Highland HM, Locke AE, Grarup N, Im HK, Cingolani P, Flannick J, Fontanillas P, Fuchsberger C, Gaulton KJ, Teslovich TM, ... ... Collins FS, et al. Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. Plos Genetics. 11: e1004876. PMID 25625282 DOI: 10.1371/Journal.Pgen.1004876  0.368
2014 Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau-Chonka DC, Day FR, Duan Y, ... ... Collins FS, et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nature Genetics. 46: 1173-86. PMID 25282103 DOI: 10.1038/Ng.3097  0.735
2014 Rees MG, Raimondo A, Wang J, Ban MR, Davis MI, Barrett A, Ranft J, Jagdhuhn D, Waterstradt R, Baltrusch S, Simeonov A, Collins FS, Hegele RA, Gloyn AL. Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families. Human Molecular Genetics. 23: 5570-8. PMID 24879641 DOI: 10.1093/Hmg/Ddu269  0.323
2014 Kelada SN, Carpenter DE, Aylor DL, Chines P, Rutledge H, Chesler EJ, Churchill GA, Pardo-Manuel de Villena F, Schwartz DA, Collins FS. Integrative genetic analysis of allergic inflammation in the murine lung. American Journal of Respiratory Cell and Molecular Biology. 51: 436-45. PMID 24693920 DOI: 10.1165/Rcmb.2013-0501Oc  0.353
2014 Mahajan A, Go MJ, Zhang W, Below JE, Gaulton KJ, Ferreira T, Horikoshi M, Johnson AD, Ng MC, Prokopenko I, ... ... Collins FS, et al. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nature Genetics. 46: 234-44. PMID 24509480 DOI: 10.1038/Ng.2897  0.361
2014 Service SK, Teslovich TM, Fuchsberger C, Ramensky V, Yajnik P, Koboldt DC, Larson DE, Zhang Q, Lin L, Welch R, Ding L, McLellan MD, O'Laughlin M, Fronick C, Fulton LL, ... ... Collins FS, et al. Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci. Plos Genetics. 10: e1004147. PMID 24497850 DOI: 10.1371/Journal.Pgen.1004147  0.378
2014 Kulzer JR, Stitzel ML, Morken MA, Huyghe JR, Fuchsberger C, Kuusisto J, Laakso M, Boehnke M, Collins FS, Mohlke KL. A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell. American Journal of Human Genetics. 94: 186-97. PMID 24439111 DOI: 10.1016/J.Ajhg.2013.12.011  0.369
2013 Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, Demirkan A, ... ... Collins FS, et al. Discovery and refinement of loci associated with lipid levels. Nature Genetics. 45: 1274-83. PMID 24097068 DOI: 10.1038/Ng.2797  0.468
2013 Do R, Willer CJ, Schmidt EM, Sengupta S, Gao C, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, ... ... Collins FS, et al. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nature Genetics. 45: 1345-52. PMID 24097064 DOI: 10.1038/Ng.2795  0.43
2013 Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, Mahadevan J, Peltonen S, Huopio H, Nuutila P, Narisu N, Goldfeder RL, Stitzel ML, Lu S, Boehnke M, ... ... Collins FS, et al. Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation. Diabetes. 62: 3943-50. PMID 23903355 DOI: 10.2337/Db13-0571  0.332
2013 Gartner JJ, Parker SC, Prickett TD, Dutton-Regester K, Stitzel ML, Lin JC, Davis S, Simhadri VL, Jha S, Katagiri N, Gotea V, Teer JK, Wei X, Morken MA, Bhanot UK, ... ... Collins FS, et al. Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma. Proceedings of the National Academy of Sciences of the United States of America. 110: 13481-6. PMID 23901115 DOI: 10.1073/Pnas.1304227110  0.333
2013 Randall JC, Winkler TW, Kutalik Z, Berndt SI, Jackson AU, Monda KL, Kilpeläinen TO, Esko T, Mägi R, Li S, Workalemahu T, Feitosa MF, Croteau-Chonka DC, Day FR, Fall T, ... ... Collins FS, et al. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. Plos Genetics. 9: e1003500. PMID 23754948 DOI: 10.1371/Journal.Pgen.1003500  0.319
2013 Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, Esko T, Fall T, Ferreira T, Gentilini D, Jackson AU, ... ... Collins FS, et al. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics. 45: 501-12. PMID 23563607 DOI: 10.1038/Ng.2606  0.537
2013 Wu Y, Waite LL, Jackson AU, Sheu WH, Buyske S, Absher D, Arnett DK, Boerwinkle E, Bonnycastle LL, Carty CL, Cheng I, Cochran B, Croteau-Chonka DC, Dumitrescu L, Eaton CB, ... ... Collins FS, et al. Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. Plos Genetics. 9: e1003379. PMID 23555291 DOI: 10.1371/Journal.Pgen.1003379  0.32
2013 Pendse J, Ramachandran PV, Na J, Narisu N, Fink JL, Cagan RL, Collins FS, Baranski TJ. 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. Bmc Genomics. 14: 136. PMID 23445342 DOI: 10.1186/1471-2164-14-136  0.4
2013 Dubose AJ, Lichtenstein ST, Narisu N, Bonnycastle LL, Swift AJ, Chines PS, Collins FS. Use of microarray hybrid capture and next-generation sequencing to identify the anatomy of a transgene. Nucleic Acids Research. 41: e70. PMID 23314155 DOI: 10.1093/Nar/Gks1463  0.314
2013 Huyghe JR, Jackson AU, Fogarty MP, Buchkovich ML, Stančáková A, Stringham HM, Sim X, Yang L, Fuchsberger C, Cederberg H, Chines PS, Teslovich TM, Romm JM, Ling H, McMullen I, ... ... Collins FS, et al. Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nature Genetics. 45: 197-201. PMID 23263489 DOI: 10.1038/Ng.2507  0.329
2012 Bradley A, Anastassiadis K, Ayadi A, Battey JF, Bell C, Birling MC, Bottomley J, Brown SD, Bürger A, Bult CJ, Bushell W, Collins FS, Desaintes C, Doe B, Economides A, et al. The mammalian gene function resource: the International Knockout Mouse Consortium. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 23: 580-6. PMID 22968824 DOI: 10.1007/S00335-012-9422-2  0.372
2012 Scott RA, Lagou V, Welch RP, Wheeler E, Montasser ME, Luan J, Mägi R, Strawbridge RJ, Rehnberg E, Gustafsson S, Kanoni S, Rasmussen-Torvik LJ, Yengo L, Lecoeur C, Shungin D, ... ... Collins FS, et al. Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nature Genetics. 44: 991-1005. PMID 22885924 DOI: 10.1038/Ng.2385  0.37
2012 Morris AP, Voight BF, Teslovich TM, Ferreira T, Segrè AV, Steinthorsdottir V, Strawbridge RJ, Khan H, Grallert H, Mahajan A, Prokopenko I, Kang HM, Dina C, Esko T, Fraser RM, ... ... Collins FS, et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nature Genetics. 44: 981-90. PMID 22885922 DOI: 10.1038/Ng.2383  0.347
2012 Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N, Chen H, Rybin D, Liu CT, Bielak LF, Prokopenko I, Amin N, Barnes D, Cadby G, Hottenga JJ, Ingelsson E, ... ... Collins FS, et al. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nature Genetics. 44: 659-69. PMID 22581228 DOI: 10.1038/Ng.2274  0.315
2012 Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, ... ... Collins FS, et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. Plos Genetics. 8: e1002607. PMID 22479202 DOI: 10.1371/Journal.Pgen.1002607  0.599
2012 Scott RA, Chu AY, Grarup N, Manning AK, Hivert MF, Shungin D, Tönjes A, Yesupriya A, Barnes D, Bouatia-Naji N, Glazer NL, Jackson AU, Kutalik Z, Lagou V, Marek D, ... ... Collins FS, et al. No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levels. Diabetes. 61: 1291-6. PMID 22415877 DOI: 10.2337/Db11-0973  0.306
2012 Kelada SN, Aylor DL, Peck BC, Ryan JF, Tavarez U, Buus RJ, Miller DR, Chesler EJ, Threadgill DW, Churchill GA, Pardo-Manuel de Villena F, Collins FS. Genetic analysis of hematological parameters in incipient lines of the collaborative cross. G3 (Bethesda, Md.). 2: 157-65. PMID 22384394 DOI: 10.1534/G3.111.001776  0.353
2012 Iraqi FA, Mahajne M, Salaymah Y, Sandovski H, Tayem H, Vered K, Balmer L, Hall M, Manship G, Morahan G, Pettit K, Scholten J, Tweedie K, Wallace A, Weerasekera L, ... ... Collins FS, et al. The genome architecture of the collaborative cross mouse genetic reference population Genetics. 190: 389-401. PMID 22345608 DOI: 10.1534/Genetics.111.132639  0.325
2012 Conneely KN, Capell BC, Erdos MR, Sebastiani P, Solovieff N, Swift AJ, Baldwin CT, Budagov T, Barzilai N, Atzmon G, Puca AA, Perls TT, Geesaman BJ, Boehnke M, Collins FS. Human longevity and common variations in the LMNA gene: a meta-analysis. Aging Cell. 11: 475-81. PMID 22340368 DOI: 10.1111/J.1474-9726.2012.00808.X  0.328
2012 Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, An SS, Hester JM, Cooke JN, Bostrom MA, Rudock ME, Talbert ME, Lewis JP, Ferrara A, ... ... Collins FS, et al. A genome-wide association search for type 2 diabetes genes in African Americans. Plos One. 7: e29202. PMID 22238593 DOI: 10.1371/Journal.Pone.0029202  0.611
2012 Rees MG, Ng D, Ruppert S, Turner C, Beer NL, Swift AJ, Morken MA, Below JE, Blech I, Mullikin JC, McCarthy MI, Biesecker LG, Gloyn AL, Collins FS. Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. The Journal of Clinical Investigation. 122: 205-17. PMID 22182842 DOI: 10.1172/Jci46425  0.374
2012 Rees MG, Wincovitch S, Schultz J, Waterstradt R, Beer NL, Baltrusch S, Collins FS, Gloyn AL. Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk. Diabetologia. 55: 114-22. PMID 22038520 DOI: 10.1007/S00125-011-2348-5  0.322
2011 Melgar MF, Collins FS, Sethupathy P. Discovery of active enhancers through bidirectional expression of short transcripts. Genome Biology. 12: R113. PMID 22082242 DOI: 10.1186/Gb-2011-12-11-R113  0.346
2011 Wain LV, Verwoert GC, O'Reilly PF, Shi G, Johnson T, Johnson AD, Bochud M, Rice KM, Henneman P, Smith AV, Ehret GB, Amin N, Larson MG, Mooser V, Hadley D, ... ... Collins FS, et al. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nature Genetics. 43: 1005-11. PMID 21909110 DOI: 10.1038/Ng.922  0.309
2011 Strawbridge RJ, Dupuis J, Prokopenko I, Barker A, Ahlqvist E, Rybin D, Petrie JR, Travers ME, Bouatia-Naji N, Dimas AS, Nica A, Wheeler E, Chen H, Voight BF, Taneera J, ... ... Collins FS, et al. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes. 60: 2624-34. PMID 21873549 DOI: 10.2337/Db11-0415  0.33
2011 Cao K, Graziotto JJ, Blair CD, Mazzulli JR, Erdos MR, Krainc D, Collins FS. Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells. Science Translational Medicine. 3: 89ra58. PMID 21715679 DOI: 10.1126/Scitranslmed.3002346  0.302
2011 Cao K, Blair CD, Faddah DA, Kieckhaefer JE, Olive M, Erdos MR, Nabel EG, Collins FS. Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts. The Journal of Clinical Investigation. 121: 2833-44. PMID 21670498 DOI: 10.1172/Jci43578  0.315
2011 Aylor DL, Valdar W, Foulds-Mathes W, Buus RJ, Verdugo RA, Baric RS, Ferris MT, Frelinger JA, Heise M, Frieman MB, Gralinski LE, Bell TA, Didion JD, Hua K, Nehrenberg DL, ... ... Collins FS, et al. Genetic analysis of complex traits in the emerging Collaborative Cross. Genome Research. 21: 1213-22. PMID 21406540 DOI: 10.1101/Gr.111310.110  0.328
2011 Collins FS. Genome-sequencing anniversary. Faces of the genome. Science (New York, N.Y.). 331: 546. PMID 21292963 DOI: 10.1126/Science.1202894  0.346
2011 Jafar-Mohammadi B, Groves CJ, Gjesing AP, Herrera BM, Winckler W, Stringham HM, Morris AP, Lauritzen T, Doney AS, Morris AD, Weedon MN, Swift AJ, Kuusisto J, Laakso M, Altshuler D, ... ... Collins FS, et al. A role for coding functional variants in HNF4A in type 2 diabetes susceptibility. Diabetologia. 54: 111-9. PMID 20878384 DOI: 10.1007/S00125-010-1916-4  0.334
2010 Stitzel ML, Sethupathy P, Pearson DS, Chines PS, Song L, Erdos MR, Welch R, Parker SC, Boyle AP, Scott LJ, Margulies EH, Boehnke M, Furey TS, Crawford GE, ... Collins FS, et al. Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. Cell Metabolism. 12: 443-55. PMID 21035756 DOI: 10.1016/J.Cmet.2010.09.012  0.738
2010 Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Lango Allen H, Lindgren CM, Luan J, Mägi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, ... ... Collins FS, et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature Genetics. 42: 937-48. PMID 20935630 DOI: 10.1038/Ng.686  0.33
2010 Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Steinthorsdottir V, Thorleifsson G, Zillikens MC, Speliotes EK, Mägi R, Workalemahu T, White CC, Bouatia-Naji N, Harris TB, Berndt SI, ... ... Collins FS, et al. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nature Genetics. 42: 949-60. PMID 20935629 DOI: 10.1038/Ng.685  0.319
2010 Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, Ferreira T, Wood AR, Weyant RJ, Segrè AV, Speliotes EK, ... ... Collins FS, et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. 467: 832-8. PMID 20881960 DOI: 10.1038/Nature09410  0.409
2010 Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, Dupuis J, Bouatia-Naji N, Langenberg C, Prokopenko I, Stolerman E, Sandhu MS, Heeney MM, Devaney JM, Reilly MP, Ricketts SL, ... ... Collins FS, et al. Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes. 59: 3229-39. PMID 20858683 DOI: 10.2337/Db10-0502  0.306
2010 Teer JK, Bonnycastle LL, Chines PS, Hansen NF, Aoyama N, Swift AJ, Abaan HO, Albert TJ, Margulies EH, Green ED, Collins FS, Mullikin JC, Biesecker LG. Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Research. 20: 1420-31. PMID 20810667 DOI: 10.1101/Gr.106716.110  0.329
2010 Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, ... ... Collins FS, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 466: 707-13. PMID 20686565 DOI: 10.1038/Nature09270  0.301
2010 Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, ... ... Collins FS, et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature Genetics. 42: 579-89. PMID 20581827 DOI: 10.1038/Ng.609  0.501
2010 McDaniell R, Lee BK, Song L, Liu Z, Boyle AP, Erdos MR, Scott LJ, Morken MA, Kucera KS, Battenhouse A, Keefe D, Collins FS, Willard HF, Lieb JD, Furey TS, et al. Heritable individual-specific and allele-specific chromatin signatures in humans. Science (New York, N.Y.). 328: 235-9. PMID 20299549 DOI: 10.1126/Science.1184655  0.732
2010 Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, ... ... Collins FS, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nature Genetics. 42: 105-16. PMID 20081858 DOI: 10.1038/Ng.520  0.515
2010 Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, ... ... Collins FS, et al. Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Nature Genetics. 42: 464-464. DOI: 10.1038/Ng0510-464A  0.491
2010 Stitzel ML, Sethupathy P, Pearson DS, Chines PS, Song L, Erdos MR, Welch R, Parker SCJ, Boyle AP, Scott LJ, Program NCS, Margulies EH, Boehnke M, Furey TS, Crawford GE, ... Collins FS, et al. Erratum: Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci (Cell Metabolism (2010) 12 (443-455)) Cell Metabolism. 12. DOI: 10.1016/J.Cmet.2010.11.013  0.709
2009 Taimen P, Pfleghaar K, Shimi T, Möller D, Ben-Harush K, Erdos MR, Adam SA, Herrmann H, Medalia O, Collins FS, Goldman AE, Goldman RD. A progeria mutation reveals functions for lamin A in nuclear assembly, architecture, and chromosome organization. Proceedings of the National Academy of Sciences of the United States of America. 106: 20788-93. PMID 19926845 DOI: 10.1073/Pnas.0911895106  0.305
2009 Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, et al. Finding the missing heritability of complex diseases. Nature. 461: 747-53. PMID 19812666 DOI: 10.1038/Nature08494  0.335
2009 Prokunina-Olsson L, Kaplan LM, Schadt EE, Collins FS. Alternative splicing of TCF7L2 gene in omental and subcutaneous adipose tissue and risk of type 2 diabetes. Plos One. 4: e7231. PMID 19789636 DOI: 10.1371/Journal.Pone.0007231  0.34
2009 Temple G, Gerhard DS, Rasooly R, Feingold EA, Good PJ, Robinson C, Mandich A, Derge JG, Lewis J, Shoaf D, Collins FS, Jang W, Wagner L, Shenmen CM, et al. The completion of the Mammalian Gene Collection (MGC). Genome Research. 19: 2324-33. PMID 19767417 DOI: 10.1101/Gr.095976.109  0.364
2009 Manolio TA, Collins FS. The HapMap and genome-wide association studies in diagnosis and therapy. Annual Review of Medicine. 60: 443-56. PMID 19630580 DOI: 10.1146/Annurev.Med.60.061907.093117  0.35
2009 Prokunina-Olsson L, Welch C, Hansson O, Adhikari N, Scott LJ, Usher N, Tong M, Sprau A, Swift A, Bonnycastle LL, Erdos MR, He Z, Saxena R, Harmon B, Kotova O, ... ... Collins FS, et al. Tissue-specific alternative splicing of TCF7L2. Human Molecular Genetics. 18: 3795-804. PMID 19602480 DOI: 10.1093/Hmg/Ddp321  0.323
2009 Lindgren CM, Heid IM, Randall JC, Lamina C, Steinthorsdottir V, Qi L, Speliotes EK, Thorleifsson G, Willer CJ, Herrera BM, Jackson AU, Lim N, Scheet P, Soranzo N, Amin N, ... ... Collins FS, et al. Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. Plos Genetics. 5: e1000508. PMID 19557161 DOI: 10.1371/Journal.Pgen.1000508  0.305
2009 Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proceedings of the National Academy of Sciences of the United States of America. 106: 9362-7. PMID 19474294 DOI: 10.1073/Pnas.0903103106  0.346
2009 Novotny E, Compton S, Liu PP, Collins FS, Chandrasekharappa SC. In vitro hematopoietic differentiation of mouse embryonic stem cells requires the tumor suppressor menin and is mediated by Hoxa9. Mechanisms of Development. 126: 517-22. PMID 19393316 DOI: 10.1016/J.Mod.2009.04.001  0.337
2009 Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, ... ... Collins FS, et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics. 41: 25-34. PMID 19079261 DOI: 10.1038/Ng.287  0.325
2009 Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N, Thorleifsson G, Loos RJ, Manning AK, Jackson AU, Aulchenko Y, Potter SC, Erdos MR, Sanna S, Hottenga JJ, Wheeler E, ... ... Collins FS, et al. Variants in MTNR1B influence fasting glucose levels. Nature Genetics. 41: 77-81. PMID 19060907 DOI: 10.1038/Ng.290  0.309
2008 Gaulton KJ, Willer CJ, Li Y, Scott LJ, Conneely KN, Jackson AU, Duren WL, Chines PS, Narisu N, Bonnycastle LL, Luo J, Tong M, Sprau AG, Pugh EW, Doheny KF, ... ... Collins FS, et al. Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes. Diabetes. 57: 3136-44. PMID 18678618 DOI: 10.2337/Db07-1731  0.343
2008 Chen WM, Erdos MR, Jackson AU, Saxena R, Sanna S, Silver KD, Timpson NJ, Hansen T, Orrù M, Grazia Piras M, Bonnycastle LL, Willer CJ, Lyssenko V, Shen H, Kuusisto J, ... ... Collins FS, et al. Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. The Journal of Clinical Investigation. 118: 2620-8. PMID 18521185 DOI: 10.1172/Jci34566  0.301
2008 Manolio TA, Brooks LD, Collins FS. A HapMap harvest of insights into the genetics of common disease. The Journal of Clinical Investigation. 118: 1590-605. PMID 18451988 DOI: 10.1172/Jci34772  0.344
2008 Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, Ardlie K, Boström KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, ... ... Collins FS, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nature Genetics. 40: 638-45. PMID 18372903 DOI: 10.1038/Ng.120  0.336
2008 Sagelius H, Rosengardten Y, Hanif M, Erdos MR, Rozell B, Collins FS, Eriksson M. Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease. Journal of Cell Science. 121: 969-78. PMID 18334552 DOI: 10.1242/Jcs.022913  0.311
2008 Shen HC, Rosen JE, Yang LM, Savage SA, Burns AL, Mateo CM, Agarwal SK, Chandrasekharappa SC, Spiegel AM, Collins FS, Marx SJ, Libutti SK. Parathyroid tumor development involves deregulation of homeobox genes. Endocrine-Related Cancer. 15: 267-75. PMID 18310293 DOI: 10.1677/Erc-07-0191  0.339
2008 Agalliu I, Suuriniemi M, Prokunina-Olsson L, Johanneson B, Collins FS, Stanford JL, Ostrander EA. Evaluation of a variant in the transcription factor 7-like 2 (TCF7L2) gene and prostate cancer risk in a population-based study. The Prostate. 68: 740-7. PMID 18302196 DOI: 10.1002/Pros.20732  0.307
2008 Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen WM, Bonnycastle LL, Shen H, Timpson N, Lettre G, Usala G, Chines PS, Stringham HM, Scott LJ, Dei M, Lai S, ... ... Collins FS, et al. Common variants in the GDF5-UQCC region are associated with variation in human height. Nature Genetics. 40: 198-203. PMID 18193045 DOI: 10.1038/Ng.74  0.364
2008 Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, Strait J, Duren WL, Maschio A, Busonero F, Mulas A, ... ... Collins FS, et al. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nature Genetics. 40: 161-9. PMID 18193043 DOI: 10.1038/Ng.76  0.312
2007 Ji Y, Prasad NB, Novotny EA, Kaur S, Elkahloun A, Chen Y, Zhang RZ, Chu ML, Agarwal SK, Marx SJ, Collins FS, Chandrasekharappa SC. Mouse embryo fibroblasts lacking the tumor suppressor menin show altered expression of extracellular matrix protein genes. Molecular Cancer Research : McR. 5: 1041-51. PMID 17951404 DOI: 10.1158/1541-7786.Mcr-06-0379  0.307
2007 Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, Frazer KA, Ballinger DG, ... ... Collins FS, et al. Genome-wide detection and characterization of positive selection in human populations. Nature. 449: 913-8. PMID 17943131 DOI: 10.1038/Nature06250  0.342
2007 Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, ... ... Collins FS, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature. 449: 851-61. PMID 17943122 DOI: 10.1038/Nature06258  0.336
2007 Manolio TA, Rodriguez LL, Brooks L, Abecasis G, Ballinger D, Daly M, Donnelly P, Faraone SV, Frazer K, Gabriel S, Gejman P, ... ... Collins FS, et al. New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nature Genetics. 39: 1045-51. PMID 17728769 DOI: 10.1038/Ng2127  0.316
2007 Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH, Weng Z, Snyder M, Dermitzakis ET, Thurman RE, Kuehn MS, Taylor CM, Neph S, Koch CM, ... ... Collins FS, et al. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 447: 799-816. PMID 17571346 DOI: 10.1038/Nature05874  0.74
2007 Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, Prokunina-Olsson L, Ding CJ, Swift AJ, Narisu N, Hu T, ... ... Collins FS, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (New York, N.Y.). 316: 1341-5. PMID 17463248 DOI: 10.1126/Science.1142382  0.369
2007 Collins FS, Finnell RH, Rossant J, Wurst W. A new partner for the international knockout mouse consortium. Cell. 129: 235. PMID 17448981 DOI: 10.1016/J.Cell.2007.04.007  0.321
2007 Cao K, Capell BC, Erdos MR, Djabali K, Collins FS. A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells. Proceedings of the National Academy of Sciences of the United States of America. 104: 4949-54. PMID 17360355 DOI: 10.1073/Pnas.0611640104  0.312
2007 Agarwal SK, Impey S, McWeeney S, Scacheri PC, Collins FS, Goodman RH, Spiegel AM, Marx SJ. Distribution of menin-occupied regions in chromatin specifies a broad role of menin in transcriptional regulation. Neoplasia (New York, N.Y.). 9: 101-7. PMID 17356705 DOI: 10.1593/Neo.06706  0.386
2007 Collins FS, Barker AD. Mapping the cancer genome Scientific American. 296: 50-57. PMID 17348159 DOI: 10.1038/Scientificamerican0307-50  0.334
2007 Ozawa A, Agarwal SK, Mateo CM, Burns AL, Rice TS, Kennedy PA, Quigley CM, Simonds WF, Weinstein LS, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations. The Journal of Clinical Endocrinology and Metabolism. 92: 1948-51. PMID 17299066 DOI: 10.1210/Jc.2006-2563  0.301
2007 Collins FS, Rossant J, Wurst W. A mouse for all reasons. Cell. 128: 9-13. PMID 17218247 DOI: 10.1016/J.Cell.2006.12.018  0.338
2007 Willer CJ, Bonnycastle LL, Conneely KN, Duren WL, Jackson AU, Scott LJ, Narisu N, Chines PS, Skol A, Stringham HM, Petrie J, Erdos MR, Swift AJ, Enloe ST, Sprau AG, ... ... Collins FS, et al. Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes. Diabetes. 56: 256-64. PMID 17192490 DOI: 10.2337/Db06-0461  0.305
2007 Shtir C, Nagakawa IS, Duren WL, Conneely KN, Scott LJ, Silander K, Valle TT, Tuomilehto J, Buchanan TA, Bergman RN, Collins FS, Boehnke M, Watanabe RM. Subsets of Finns with high HDL to total cholesterol ratio show evidence for linkage to type 2 diabetes on chromosome 6q. Human Heredity. 63: 17-25. PMID 17179727 DOI: 10.1159/000097927  0.314
2007 Baffoe-Bonnie AB, Kittles RA, Gillanders E, Ou L, George A, Robbins C, Ahaghotu C, Bennett J, Boykin W, Hoke G, Mason T, Pettaway C, Vijayakumar S, Weinrich S, Jones MP, ... ... Collins FS, et al. Genome-wide linkage of 77 families from the African American Hereditary Prostate Cancer study (AAHPC). The Prostate. 67: 22-31. PMID 17031815 DOI: 10.1002/Pros.20456  0.325
2006 Capell BC, Collins FS. Human laminopathies: Nuclei gone genetically awry Nature Reviews Genetics. 7: 940-952. PMID 17139325 DOI: 10.1038/Nrg1906  0.362
2006 Manolio TA, Bailey-Wilson JE, Collins FS. Genes, environment and the value of prospective cohort studies. Nature Reviews. Genetics. 7: 812-20. PMID 16983377 DOI: 10.1038/Nrg1919  0.316
2006 Scott LJ, Bonnycastle LL, Willer CJ, Sprau AG, Jackson AU, Narisu N, Duren WL, Chines PS, Stringham HM, Erdos MR, Valle TT, Tuomilehto J, Bergman RN, Mohlke KL, Collins FS, et al. Association of transcription factor 7-like 2 (TCF7L2) variants with type 2 diabetes in a Finnish sample. Diabetes. 55: 2649-53. PMID 16936217 DOI: 10.2337/Db06-0341  0.339
2006 Bonnycastle LL, Willer CJ, Conneely KN, Jackson AU, Burrill CP, Watanabe RM, Chines PS, Narisu N, Scott LJ, Enloe ST, Swift AJ, Duren WL, Stringham HM, Erdos MR, Riebow NL, ... ... Collins FS, et al. Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns. Diabetes. 55: 2534-40. PMID 16936201 DOI: 10.2337/Db06-0178  0.328
2006 Cerrato A, Parisi M, Anna SS, Missirlis F, Guru S, Agarwal S, Sturgill D, Talbot T, Spiegel A, Collins F, Chandrasekharappa S, Marx S, Oliver B. Genetic interactions between Drosophila melanogaster menin and Jun/Fos Developmental Biology. 298: 59-70. PMID 16930585 DOI: 10.1016/J.Ydbio.2006.06.013  0.315
2006 Crawford GE, Davis S, Scacheri PC, Renaud G, Halawi MJ, Erdos MR, Green R, Meltzer PS, Wolfsberg TG, Collins FS. DNase-chip: a high-resolution method to identify DNase I hypersensitive sites using tiled microarrays. Nature Methods. 3: 503-9. PMID 16791207 DOI: 10.1038/Nmeth888  0.594
2006 Lewinski MK, Yamashita M, Emerman M, Ciuffi A, Marshall H, Crawford G, Collins F, Shinn P, Leipzig J, Hannenhalli S, Berry CC, Ecker JR, Bushman FD. Retroviral DNA integration: viral and cellular determinants of target-site selection. Plos Pathogens. 2: e60. PMID 16789841 DOI: 10.1371/Journal.Ppat.0020060  0.539
2006 Bernat JA, Crawford GE, Ogurtsov AY, Collins FS, Ginsburg D, Kondrashov AS. Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs. Human Molecular Genetics. 15: 2098-105. PMID 16723375 DOI: 10.1093/Hmg/Ddl133  0.597
2006 Scacheri PC, Davis S, Odom DT, Crawford GE, Perkins S, Halawi MJ, Agarwal SK, Marx SJ, Spiegel AM, Meltzer PS, Collins FS. Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis. Plos Genetics. 2: e51. PMID 16604156 DOI: 10.1371/Journal.Pgen.0020051  0.599
2006 Varga R, Eriksson M, Erdos MR, Olive M, Harten I, Kolodgie F, Capell BC, Cheng J, Faddah D, Perkins S, Avallone H, San H, Qu X, Ganesh S, Gordon LB, ... ... Collins FS, et al. Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. Proceedings of the National Academy of Sciences of the United States of America. 103: 3250-5. PMID 16492728 DOI: 10.1073/Pnas.0600012103  0.305
2006 Willer CJ, Scott LJ, Bonnycastle LL, Jackson AU, Chines P, Pruim R, Bark CW, Tsai YY, Pugh EW, Doheny KF, Kinnunen L, Mohlke KL, Valle TT, Bergman RN, Tuomilehto J, ... Collins FS, et al. Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database. Genetic Epidemiology. 30: 180-90. PMID 16374835 DOI: 10.1002/Gepi.20131  0.303
2006 Crawford GE, Holt IE, Whittle J, Webb BD, Tai D, Davis S, Margulies EH, Chen Y, Bernat JA, Ginsburg D, Zhou D, Luo S, Vasicek TJ, Daly MJ, Wolfsberg TG, ... Collins FS, et al. Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). Genome Research. 16: 123-31. PMID 16344561 DOI: 10.1101/Gr.4074106  0.6
2006 Kittles RA, Baffoe-Bonnie AB, Moses TY, Robbins CM, Ahaghotu C, Huusko P, Pettaway C, Vijayakumar S, Bennett J, Hoke G, Mason T, Weinrich S, Trent JM, Collins FS, Mousses S, et al. A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history. Journal of Medical Genetics. 43: 507-11. PMID 16155194 DOI: 10.1136/Jmg.2005.035790  0.315
2006 Bonilla C, Panguluri RK, Taliaferro-Smith L, Argyropoulos G, Chen G, Adeyemo AA, Amoah A, Owusu S, Acheampong J, Agyenim-Boateng K, Eghan BA, Oli J, Okafor G, Abbiyesuku F, Johnson T, ... ... Collins FS, et al. Agouti-related protein promoter variant associated with leanness and decreased risk for diabetes in West Africans. International Journal of Obesity (2005). 30: 715-21. PMID 16130030 DOI: 10.1038/Sj.Ijo.0803047  0.303
2005 Mohlke KL, Jackson AU, Scott LJ, Peck EC, Suh YD, Chines PS, Watanabe RM, Buchanan TA, Conneely KN, Erdos MR, Narisu N, Enloe S, Valle TT, Tuomilehto J, Bergman RN, ... ... Collins FS, et al. Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns. Human Genetics. 118: 245-54. PMID 16142453 DOI: 10.1007/S00439-005-0046-4  0.306
2005 Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS. Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proceedings of the National Academy of Sciences of the United States of America. 102: 12879-84. PMID 16129833 DOI: 10.1073/Pnas.0506001102  0.322
2005 Agarwal SK, Kennedy PA, Scacheri PC, Novotny EA, Hickman AB, Cerrato A, Rice TS, Moore JB, Rao S, Ji Y, Mateo C, Libutti SK, Oliver B, Chandrasekharappa SC, Burns AL, ... Collins FS, et al. Menin molecular interactions: insights into normal functions and tumorigenesis. Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Mã©Tabolisme. 37: 369-74. PMID 16001329 DOI: 10.1055/S-2005-870139  0.318
2005 Mohlke KL, Skol AD, Scott LJ, Valle TT, Bergman RN, Tuomilehto J, Boehnke M, Collins FS. Evaluation of SLC2A10 (GLUT10) as a candidate gene for type 2 diabetes and related traits in Finns. Molecular Genetics and Metabolism. 85: 323-7. PMID 15936967 DOI: 10.1016/J.Ymgme.2005.04.011  0.349
2005 Bonham VL, Warshauer-Baker E, Collins FS. Race and ethnicity in the genome era: The complexity of the constructs American Psychologist. 60: 9-15. PMID 15641917 DOI: 10.1037/0003-066X.60.1.9  0.307
2005 Chen G, Adeyemo AA, Johnson T, Zhou J, Amoah A, Owusu S, Acheampong J, Agyenim-Boateng K, Eghan BA, Oli J, Okafor G, Abbiyesuku F, Dunston GM, Chen Y, Collins F, et al. A genome-wide scan for quantitative trait loci linked to obesity phenotypes among West Africans International Journal of Obesity. 29: 255-259. PMID 15611782 DOI: 10.1038/Sj.Ijo.0802873  0.323
2005 Bernat JA, Kondrashov AS, Crawford GE, Collins FS, Ginsburg D. Comparative Genomic Analysis of the 5′-Upstream Sequences of von Willebrand Factor and 27 Other Endothelial-Specific Genes Identifies Conserved Noncoding Sequences That Are DNase Hypersensitive. Blood. 106: 2650-2650. DOI: 10.1182/Blood.V106.11.2650.2650  0.609
2004 Scacheri PC, Crabtree JS, Kennedy AL, Swain GP, Ward JM, Marx SJ, Spiegel AM, Collins FS. Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 872-7. PMID 15672591 DOI: 10.1007/S00335-004-2395-Z  0.305
2004 Conneely KN, Silander K, Scott LJ, Mohlke KL, Lazaridis KN, Valle TT, Tuomilehto J, Bergman RN, Watanabe RM, Buchanan TA, Collins FS, Boehnke M. Variation in the resistin gene is associated with obesity and insulin-related phenotypes in Finnish subjects. Diabetologia. 47: 1782-8. PMID 15517149 DOI: 10.1007/S00125-004-1537-X  0.314
2004 Feingold EA, Good PJ, Guyer MS, Kamholz S, Liefer L, Wetterstrand K, Collins FS, Gingeras TR, Kampa D, Sekinger EA, Cheng J, Hirsch H, Ghosh S, Zhu Z, Patel S, et al. The ENCODE (ENCyclopedia of DNA Elements) Project Science. 306: 636-640. PMID 15499007 DOI: 10.1126/Science.1105136  0.574
2004 Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, et al. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Research. 14: 2121-7. PMID 15489334 DOI: 10.1101/Gr.2596504  0.337
2004 Scacheri PC, Kennedy AL, Chin K, Miller MT, Hodgson JG, Gray JW, Marx SJ, Spiegel AM, Collins FS. Pancreatic insulinomas in multiple endocrine neoplasia, type I knockout mice can develop in the absence of chromosome instability or microsatellite instability. Cancer Research. 64: 7039-44. PMID 15466197 DOI: 10.1158/0008-5472.Can-04-1648  0.355
2004 Austin CP, Battey JF, Bradley A, Bucan M, Capecchi M, Collins FS, Dove WF, Duyk G, Dymecki S, Eppig JT, Grieder FB, Heintz N, Hicks G, Insel TR, Joyner A, et al. The knockout mouse project. Nature Genetics. 36: 921-4. PMID 15340423 DOI: 10.1038/Ng0904-921  0.346
2004 Lipkin SM, Rozek LS, Rennert G, Yang W, Chen PC, Hacia J, Hunt N, Shin B, Fodor S, Kokoris M, Greenson JK, Fearon E, Lynch H, Collins F, Gruber SB. The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Nature Genetics. 36: 694-9. PMID 15184898 DOI: 10.1038/Ng1374  0.304
2004 Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proceedings of the National Academy of Sciences of the United States of America. 101: 8963-8. PMID 15184648 DOI: 10.1073/Pnas.0402943101  0.305
2004 Collins FS. The case for a US prospective cohort study of genes and environment Nature. 429: 475-477. PMID 15164074 DOI: 10.1038/Nature02628  0.303
2004 Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G, Hines S, Lewis L, DeRamo C, Delgado O, ... ... Collins F, et al. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 428: 493-521. PMID 15057822 DOI: 10.1038/Nature02426  0.347
2004 Silander K, Mohlke KL, Scott LJ, Peck EC, Hollstein P, Skol AD, Jackson AU, Deloukas P, Hunt S, Stavrides G, Chines PS, Erdos MR, Narisu N, Conneely KN, Li C, ... ... Collins FS, et al. Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes. Diabetes. 53: 1141-9. PMID 15047633 DOI: 10.2337/Diabetes.53.4.1141  0.349
2004 Rotimi CN, Chen G, Adeyemo AA, Furbert-Harris P, Parish-Gause D, Zhou J, Berg K, Adegoke O, Amoah A, Owusu S, Acheampong J, Agyenim-Boateng K, Eghan BA, Oli J, Okafor G, ... ... Collins FS, et al. A genome-wide search for type 2 diabetes susceptibility genes in West Africans: the Africa America Diabetes Mellitus (AADM) Study. Diabetes. 53: 838-41. PMID 14988271 DOI: 10.2337/Diabetes.53.3.838  0.306
2004 Silander K, Scott LJ, Valle TT, Mohlke KL, Stringham HM, Wiles KR, Duren WL, Doheny KF, Pugh EW, Chines P, Narisu N, White PP, Fingerlin TE, Jackson AU, Li C, ... ... Collins FS, et al. A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14. Diabetes. 53: 821-9. PMID 14988269 DOI: 10.2337/Diabetes.53.3.821  0.341
2004 Scacheri PC, Rozenblatt-Rosen O, Caplen NJ, Wolfsberg TG, Umayam L, Lee JC, Hughes CM, Shanmugam KS, Bhattacharjee A, Meyerson M, Collins FS. Short interfering RNAs can induce unexpected and divergent changes in the levels of untargeted proteins in mammalian cells. Proceedings of the National Academy of Sciences of the United States of America. 101: 1892-7. PMID 14769924 DOI: 10.1073/Pnas.0308698100  0.303
2004 Crawford GE, Holt IE, Mullikin JC, Tai D, Blakesley R, Bouffard G, Young A, Masiello C, Green ED, Wolfsberg TG, Collins FS. Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites. Proceedings of the National Academy of Sciences of the United States of America. 101: 992-7. PMID 14732688 DOI: 10.1073/Pnas.0307540100  0.618
2003 Collins FS, Watson JD. Genetic discrimination: time to act. Science (New York, N.Y.). 302: 745. PMID 14593134 DOI: 10.1126/Science.302.5646.745  0.322
2003 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, ... ... Collins FS, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 423: 293-8. PMID 12714972 DOI: 10.1038/Nature01629  0.335
2003 Collins FS, Green ED, Guttmacher AE, Guyer MS. A vision for the future of genomics research Nature. 422: 835-847. PMID 12695777 DOI: 10.1038/Nature01626  0.323
2003 Sukhodolets KE, Hickman AB, Agarwal SK, Sukhodolets MV, Obungu VH, Novotny EA, Crabtree JS, Chandrasekharappa 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 and Cellular Biology. 23: 493-509. PMID 12509449 DOI: 10.1128/Mcb.23.2.493-509.2003  0.305
2003 Urbanek M, Du Y, Silander K, Collins FS, Steppan CM, Strauss JF, Dunaif A, Spielman RS, Legro RS. Variation in resistin gene promoter not associated with polycystic ovary syndrome. Diabetes. 52: 214-7. PMID 12502516 DOI: 10.2337/Diabetes.52.1.214  0.379
2003 Wolfsberg TG, Wetterstrand KA, Guyer MS, Collins FS, Baxevanis AD. A user's guide to the human genome Nature Genetics. 35: 4-4. DOI: 10.1038/Ng964  0.321
2003 Belmont JW, Hardenbol P, Willis TD, Yu F, Yang H, Ch'Ang LY, Huang W, Liu B, Shen Y, Tam PKH, Tsui LC, Waye MMY, Wong JTF, Zeng C, Zhang Q, ... ... Collins FS, et al. The international HapMap project Nature. 426: 789-796. DOI: 10.1038/Nature02168  0.334
2002 Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99: 16899-903. PMID 12477932 DOI: 10.1073/Pnas.242603899  0.349
2002 Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, ... ... Collins FS, et al. Initial sequencing and comparative analysis of the mouse genome. Nature. 420: 520-62. PMID 12466850 DOI: 10.1038/Nature01262  0.342
2002 Guttmacher AE, Collins FS. Genomic medicine - A primer New England Journal of Medicine. 347: 1512-1520. PMID 12421895 DOI: 10.1056/Nejmra012240  0.341
2002 Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genetics. 31: 435-8. PMID 12118255 DOI: 10.1038/Ng935  0.366
2002 Fingerlin TE, Erdos MR, Watanabe RM, Wiles KR, Stringham HM, Mohlke 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. 51: 1644-8. PMID 11978669 DOI: 10.2337/Diabetes.51.5.1644  0.318
2001 Collins FS, Guttmacher AE. Genetics moves into the medical mainstream Journal of the American Medical Association. 286: 2322-2324. PMID 11710899 DOI: 10.1001/Jama.286.18.2322  0.334
2001 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 (New York, N.Y. : 2000). 30: 259-63. PMID 11536432 DOI: 10.1002/Gene.1072  0.328
2001 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. 11: 1221-6. PMID 11435404 DOI: 10.1101/Gr.173201  0.338
2001 Collins FS. Contemplating the end of the beginning Genome Research. 11: 641-643. PMID 11337461 DOI: 10.1101/Gr.1898  0.323
2001 Lipkin SM, Wang V, Stoler DL, Anderson GR, Kirsch I, 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. 17: 389-396. PMID 11317354 DOI: 10.1002/Humu.1114  0.331
2001 Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, ... ... Collins F, et al. Initial sequencing and analysis of the human genome. Nature. 409: 860-921. PMID 11237011 DOI: 10.1038/35057062  0.314
2001 Guru SC, Prasad NB, Shin EJ, Hemavathy K, Lu J, Ip YT, Agarwal SK, Marx SJ, Spiegel AM, Collins FS, Oliver B, Chandrasekharappa SC. Characterization of a MEN1 ortholog from Drosophila melanogaster. Gene. 263: 31-8. PMID 11223240 DOI: 10.1016/S0378-1119(00)00562-X  0.353
2001 Collins FS, McKusick VA. Implications of the Human Genome Project for medical science. Jama. 285: 540-4. PMID 11176855 DOI: 10.1001/Jama.285.5.540  0.325
2001 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, ... ... Collins F, et al. In search of susceptibility genes for type 2 diabetes in West Africa: The design and results of the first phase of the AADM study Annals of Epidemiology. 11: 51-58. PMID 11164120 DOI: 10.1016/S1047-2797(00)00180-0  0.319
2001 Collins FS, Mansoura MK. The human genome project: Revealing the shared inheritance of all humankind Cancer. 91: 221-225. PMID 11148583 DOI: 10.1002/1097-0142(20010101)91:1+<221::Aid-Cncr8>3.3.Co;2-0  0.334
2001 Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, Fitzhugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, ... ... Collins F, et al. Erratum: Initial sequencing and analysis of the human genome: International Human Genome Sequencing Consortium (Nature (2001) 409 (860-921)) Nature. 412: 565-566. DOI: 10.1038/35087627  0.306
2000 Hacia JG, Edgemon K, Fang N, Mayer RA, Sudano D, Hunt N, Collins FS. Oligonucleotide microarray based detection of repetitive sequence changes. Human Mutation. 16: 354-63. PMID 11013446 DOI: 10.1002/1098-1004(200010)16:4<354::Aid-Humu8>3.0.Co;2-V  0.31
2000 Karanjawala ZE, Kääriäinen H, Ghosh S, Tannenbaum J, Martin C, Ally D, Tuomilehto J, Valle T, Collins FS. Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor. American Journal of Medical Genetics. 93: 207-10. PMID 10925383 DOI: 10.1002/1096-8628(20000731)93:3<207::Aid-Ajmg9>3.0.Co;2-A  0.337
2000 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 : Official Journal of the International Mammalian Genome Society. 11: 448-54. PMID 10818209 DOI: 10.1007/S003350010085  0.342
2000 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 & Cancer. 28: 58-65. PMID 10738303 DOI: 10.1002/(Sici)1098-2264(200005)28:1<58::Aid-Gcc7>3.0.Co;2-2  0.33
2000 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. Nature Genetics. 24: 27-35. PMID 10615123 DOI: 10.1038/71643  0.347
2000 Watanabe RM, Ghosh S, Langefeld CD, Valle TT, Hauser ER, Magnuson VL, Mohlke KL, Silander K, Ally DS, Chines P, Blaschak-Harvan J, Douglas JA, Duren WL, Epstein MP, Fingerlin TE, ... ... Collins FS, et al. The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. II. An Autosomal Genome Scan for Diabetes-Related Quantitative-Trait Loci The American Journal of Human Genetics. 67: 1186-1200. DOI: 10.1016/S0002-9297(07)62949-8  0.314
2000 Ghosh S, Watanabe RM, Valle TT, Hauser ER, Magnuson VL, Langefeld CD, Ally DS, Mohlke KL, Silander K, Kohtamäki K, Chines P, Balow J, Birznieks G, Chang J, Eldridge W, ... ... Collins FS, et al. 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. American Journal of Human Genetics. 67: 1174-1185. DOI: 10.1016/S0002-9297(07)62948-6  0.342
1999 Hacia JG, Collins FS. Mutational analysis using oligonucleotide microarrays Journal of Medical Genetics. 36: 730-736. PMID 10528850 DOI: 10.1136/Jmg.36.10.730  0.385
1999 Strausberg RL, Feingold EA, Klausner RD, Collins FS. The mammalian gene collection. Science (New York, N.Y.). 286: 455-7. PMID 10521335 DOI: 10.1126/Science.286.5439.455  0.324
1999 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, ... ... Collins FS, et al. The gene for multiple endocrine neoplasia type 1: recent findings. Bone. 25: 119-22. PMID 10423035 DOI: 10.1016/S8756-3282(99)00112-X  0.333
1999 Collins FS. Shattuck lecture - Medical and societal consequences of the human genome project New England Journal of Medicine. 341: 28-37. PMID 10387940 DOI: 10.1056/Nejm199907013410106  0.326
1999 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 SP, ... Collins FS, et al. Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Nature Genetics. 22: 164-7. PMID 10369258 DOI: 10.1038/9674  0.339
1999 Watanabe RM, Valle T, Hauser ER, Ghosh S, Eriksson J, Kohtamäki 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. Finland-United States Investigation of NIDDM Genetics (FUSION) Study investigators. Human Heredity. 49: 159-68. PMID 10364681 DOI: 10.1159/000022865  0.3
1999 Guru SC, Crabtree JS, Brown KD, Dunn KJ, Manickam P, Prasad NB, 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 : Official Journal of the International Mammalian Genome Society. 10: 592-6. PMID 10341092 DOI: 10.1007/S003359901051  0.38
1999 Ghosh S, Watanabe RM, Hauser ER, Valle T, Magnuson VL, Erdos MR, Langefeld CD, Balow J, Ally DS, Kohtamaki K, Chines P, Birznieks G, Kaleta HS, Musick A, Te C, ... ... Collins FS, et al. Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. Proceedings of the National Academy of Sciences of the United States of America. 96: 2198-203. PMID 10051618 DOI: 10.1073/Pnas.96.5.2198  0.347
1999 Hacia JG, Sun B, Hunt N, Edgemon K, Mosbrook D, Robbins C, Fodor SP, Tagle DA, Collins FS. Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Research. 8: 1245-58. PMID 9872980 DOI: 10.1101/Gr.8.12.1245  0.364
1998 Collins FS, Brooks LD, Chakravarti A. A DNA polymorphism discovery resource for research on human genetic variation Genome Research. 8: 1229-1231. PMID 9872978 DOI: 10.1101/Gr.8.12.1229  0.375
1998 Hacia JG, Brody LC, Collins FS. Applications of DNA chips for genomic analysis Molecular Psychiatry. 3: 483-492. PMID 9857973 DOI: 10.1038/Sj.Mp.4000475  0.351
1998 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, ... ... Collins FS, et al. Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3. Genome Research. 8: 1172-91. PMID 9847080 DOI: 10.1101/Gr.8.11.1172  0.448
1998 Collins FS, Patrinos A, Jordan E, Chakravarti A, Gesteland R, Walters L. New goals for the U.S. Human Genome Project: 1998-2003. Science (New York, N.Y.). 282: 682-9. PMID 9784121 DOI: 10.1126/Science.282.5389.682  0.311
1998 Xu J, Meyers D, Freije D, Isaacs S, Wiley K, Nusskern D, Ewing C, Wilkens E, Bujnovszky P, Bova GS, Walsh P, Isaacs W, Schleutker J, Matikainen M, Tammela T, ... ... Collins F, et al. Evidence for a prostate cancer susceptibility locus on the X chromosome. Nature Genetics. 20: 175-9. PMID 9771711 DOI: 10.1016/S0022-5347(01)61689-6  0.315
1998 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. 129: 484-94. PMID 9735087 DOI: 10.7326/0003-4819-129-6-199809150-00011  0.321
1998 Agarwal SK, Debelenko LV, Kester MB, Guru SC, Manickam P, Olufemi SE, Skarulis MC, Heppner C, Crabtree JS, Lubensky IA, Zhuang Z, Kim YS, Chandrasekharappa SC, Collins FS, Liotta LA, et al. Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families. Human Mutation. 12: 75-82. PMID 9671267 DOI: 10.1002/(Sici)1098-1004(1998)12:2<75::Aid-Humu1>3.0.Co;2-T  0.327
1998 Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC, Barton JC, Beutler E, Brittenham G, Buchanan A, Clayton EW, Cogswell ME, Meslin EM, Motulsky AG, Powell LW, ... ... Collins FS, et al. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. Jama. 280: 172-8. PMID 9669792 DOI: 10.1001/Jama.280.2.172  0.325
1998 Valle T, Tuomilehto J, Bergman RN, Ghosh S, Hauser ER, Eriksson J, Nylund SJ, Kohtamäki K, Toivanen L, Vidgren G, Tuomilehto-Wolf E, Ehnholm C, Blaschak J, Langefeld CD, Watanabe RM, ... ... Collins F, et al. Mapping genes for NIDDM. Design of the Finland-United States Investigation of NIDDM Genetics (FUSION) Study. Diabetes Care. 21: 949-58. PMID 9614613 DOI: 10.2337/Diacare.21.6.949  0.348
1998 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, et al. 11q13 allelotype analysis in 27 northern American MEN1 kindreds identifies two distinct founder chromosomes. Molecular Genetics and Metabolism. 63: 151-5. PMID 9562970 DOI: 10.1006/Mgme.1997.2649  0.337
1998 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 the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland. Human Mutation. 11: 264-9. PMID 9554741 DOI: 10.1002/(Sici)1098-1004(1998)11:4<264::Aid-Humu2>3.0.Co;2-V  0.339
1998 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. Proceedings of the National Academy of Sciences of the United States of America. 95: 1630-4. PMID 9465067 DOI: 10.1073/Pnas.95.4.1630  0.321
1998 Hacia JG, Makalowski W, Edgemon K, Erdos MR, Robbins CM, Fodor SP, Brody LC, Collins FS. Evolutionary sequence comparisons using high-density oligonucleotide arrays. Nature Genetics. 18: 155-8. PMID 9462745 DOI: 10.1038/Ng0298-155  0.315
1998 Hacia JG, Brody LC, Collins FS. New approaches to BRCA1 mutation detection Breast Disease. 10: 45-59. DOI: 10.3233/Bd-1998-101-207  0.32
1997 Collins FS, Guyer MS, Chakravarti A. Variations on a theme: Cataloging human DNA sequence variation Science. 278: 1580-1581. PMID 9411782 DOI: 10.1126/Science.278.5343.1580  0.317
1997 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, ... ... Collins FS, et al. Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. Human Molecular Genetics. 6: 2285-90. PMID 9361035 DOI: 10.1093/Hmg/6.13.2285  0.337
1997 Collins FS. Preparing health professionals for the genetic revolution Journal of the American Medical Association. 278: 1285-1286. PMID 9333274 DOI: 10.1001/Jama.1997.03550150089043  0.342
1997 Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS. Characterization of the CHD family of proteins Proceedings of the National Academy of Sciences of the United States of America. 94: 11472-11477. PMID 9326634 DOI: 10.1073/Pnas.94.21.11472  0.373
1997 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, ... ... Collins FS, et al. A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups. Genomics. 44: 280-91. PMID 9325049 DOI: 10.1006/Geno.1997.4860  0.411
1997 Aksentijevich I, Centola M, Deng Z, Sood R, Balow J.E. J, Wood G, Zaks N, Mansfield E, Chen X, Eisenberg S, Vedula A, Shafran N, Raben N, Pras E, Pras M, ... ... Collins FS, et al. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever Cell. 90: 797-807. PMID 9288758 DOI: 10.1016/S0092-8674(00)80539-5  0.412
1997 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, et al. A transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locus. Genome Research. 7: 725-35. PMID 9253601 DOI: 10.1101/Gr.7.7.725  0.38
1997 Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC, Doppman JL, Kim YS, Lubensky IA, Zhuang Z, Green JS, Guru SC, Manickam P, Olufemi SE, Liotta LA, ... ... Collins FS, et al. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Human Molecular Genetics. 6: 1169-75. PMID 9215689 DOI: 10.1093/Hmg/6.7.1169  0.311
1997 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. Nature Genetics. 16: 235-42. PMID 9207787 DOI: 10.1038/Ng0797-235  0.348
1997 Guru SC, Olufemi SE, Manickam P, Cummings C, Gieser LM, Pike BL, Bittner ML, Jiang Y, Chinault AC, Nowak NJ, Brzozowska A, Crabtree JS, Wang Y, Roe BA, Weisemann JM, ... ... Collins FS, et al. A 2.8-Mb clone contig of the multiple endocrine neoplasia type 1 (MEN1) region at 11q13. Genomics. 42: 436-45. PMID 9205115 DOI: 10.1006/Geno.1997.4783  0.387
1997 Humphrey JS, Salim A, Erdos MR, Collins FS, Brody LC, Klausner RD. Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing. Proceedings of the National Academy of Sciences of the United States of America. 94: 5820-5. PMID 9159158 DOI: 10.1073/Pnas.94.11.5820  0.314
1997 Dong Q, Debelenko LV, Chandrasekharappa SC, 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. The Journal of Clinical Endocrinology and Metabolism. 82: 1416-20. PMID 9141526 DOI: 10.1210/Jcem.82.5.3944  0.304
1997 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, et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science (New York, N.Y.). 276: 404-7. PMID 9103196 DOI: 10.1126/Science.276.5311.404  0.387
1997 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 up-regulated following genome damage. Proceedings of the National Academy of Sciences of the United States of America. 94: 1840-5. PMID 9050866 DOI: 10.1073/Pnas.94.5.1840  0.324
1997 Ghosh S, Karanjawala ZE, Hauser ER, Ally D, Knapp JI, Rayman JB, Musick A, Tannenbaum J, Te C, Shapiro S, Eldridge W, Musick T, Martin C, Smith JR, Carpten JD, ... ... Collins FS, et al. Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group. Genome Research. 7: 165-78. PMID 9049634 DOI: 10.1101/Gr.7.2.165  0.327
1997 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. 8: 60-61. PMID 9021153 DOI: 10.1007/S003359900350  0.329
1997 Collins FS. Sequencing the human genome Hospital Practice. 32. DOI: 10.1080/21548331.1997.11443403  0.377
1996 Hajra A, Collins FS. Structure of the leukemia-associated human CBFB gene Genomics. 38: 107. PMID 9064279 DOI: 10.1016/0888-7543(95)80177-N  0.373
1996 Russell MWW, Du Manoir S, Munroe DJ, Collins FS, Brody LC. Chromosomal localization of 15 ion channel genes Somatic Cell and Molecular Genetics. 22: 425-431. PMID 9039851 DOI: 10.1007/Bf02369898  0.368
1996 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 Nature Genetics. 14: 441-449. PMID 8944024 DOI: 10.1016/S0165-4608(97)90265-X  0.326
1996 Castilla LH, Wijmenga C, Wang Q, Stacy T, Speck NA, Eckhaus M, Marín-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. 87: 687-96. PMID 8929537 DOI: 10.1016/S0092-8674(00)81388-4  0.721
1996 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, ... ... Collins FS, et al. Characterization of EZH1, a human homolog of Drosophila enhancer of zeste near BRCA1 Genomics. 37: 161-171. PMID 8921387 DOI: 10.1006/Geno.1996.0537  0.67
1996 Smith JR, Freije D, Carpten JD, Grönberg H, Xu J, Isaacs SD, Brownstein MJ, Bova GS, Guo H, Bujnovszky P, Nusskern DR, Damber JE, Bergh A, Emanuelsson M, Kallioniemi OP, ... ... Collins FS, et al. Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science (New York, N.Y.). 274: 1371-4. PMID 8910276 DOI: 10.1126/Science.274.5291.1371  0.304
1996 Liu PP, Wijmenga C, Hajra A, Blake TB, Kelley CA, Adelstein RS, Bagg A, Rector J, Cotelingam J, Willman CL, Collins FS. Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells. Genes, Chromosomes & Cancer. 16: 77-87. PMID 8818654 DOI: 10.1002/(Sici)1098-2264(199606)16:2<77::Aid-Gcc1>3.0.Co;2-#  0.511
1996 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. 32: 163-7. PMID 8786111 DOI: 10.1006/Geno.1996.0097  0.393
1996 Russell MW, Munroe DJ, Bric E, Housman DE, Dietz-Band J, Riethman HC, Collins FS, Brody LC. A 500-kb physical map and contig from the Harvey ras-1 gene to the 11p telomere. Genomics. 35: 353-60. PMID 8661149 DOI: 10.1006/Geno.1996.0367  0.317
1996 Pecker I, Avraham KB, Gilbert DJ, 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, et al. Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene. Genomics. 35: 39-45. PMID 8661102 DOI: 10.1006/Geno.1996.0320  0.366
1996 Savitsky K, Ziv Y, Bar-Shira A, Gilad S, Tagle DA, Smith S, Uziel T, Sfez S, Nahmias J, Sartiel A, Eddy RL, Shows TB, Collins FS, Shiloh Y, Rotman G. A human gene (DDX10) encoding a putative DEAD-box RNA helicase at 11q22-q23. Genomics. 33: 199-206. PMID 8660968 DOI: 10.1006/Geno.1996.0184  0.338
1996 Wijmenga C, Gregory PE, Hajra A, Schröck E, Ried T, Eils R, Liu PP, Collins FS. Core binding factor beta-smooth muscle myosin heavy chain chimeric protein involved in acute myeloid leukemia forms unusual nuclear rod-like structures in transformed NIH 3T3 cells. Proceedings of the National Academy of Sciences of the United States of America. 93: 1630-5. PMID 8643682 DOI: 10.1073/Pnas.93.4.1630  0.486
1996 Rosenfeld MA, Collins FS. Gene therapy for cystic fibrosis Chest. 109: 241-252. PMID 8549191 DOI: 10.1378/Chest.109.1.241  0.302
1996 Collins FS. BRCA1 - Lots of mutations, lots of dilemmas New England Journal of Medicine. 334: 186-188. PMID 8531977 DOI: 10.1056/Nejm199601183340311  0.302
1995 Collins FS, Fink L. The Human Genome Project. Alcohol Health and Research World. 19: 190-195. PMID 31798046 DOI: 10.1002/1097-0142(20010101)91:1+<221::Aid-Cncr8>3.0.Co;2-9  0.339
1995 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. Human Molecular Genetics. 4: 2025-32. PMID 8589678 DOI: 10.1093/Hmg/4.11.2025  0.353
1995 Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA, Weber BL, Collins FS, Johnston C, Frank TS. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nature Genetics. 9: 439-43. PMID 7795652 DOI: 10.1038/Ng0495-439  0.321
1995 Collins FS. Positional cloning moves from perditional to traditional Nature Genetics. 9: 347-350. PMID 7795639 DOI: 10.1038/Ng0495-347  0.37
1995 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, ... ... Collins FS, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science (New York, N.Y.). 268: 1749-53. PMID 7792600  0.479
1995 Couch FJ, Castilla LH, Xu J, Abel KJ, Welcsh P, King SE, Wong L, Ho PP, Merajver S, Brody LC, Yin G, Hayes ST, Gieser LM, Flejter WL, Glover TW, ... ... Collins FS, et al. A YAC-, P1-, and cosmid-based physical Map of the BRCA1 region on chromosome 17q21 Genomics. 25: 264-273. PMID 7774927 DOI: 10.1016/0888-7543(95)80134-8  0.671
1995 Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G, 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. 25: 238-247. PMID 7774924 DOI: 10.1016/0888-7543(95)80131-5  0.703
1995 Trent JM, Weber B, Guan XY, Zhang J, Collins F, Abel K, Diamond A, Meltzer P. Microdissection and microcloning of chromosomal alterations in human breast cancer. Breast Cancer Research and Treatment. 33: 95-102. PMID 7749145 DOI: 10.1007/Bf00682717  0.348
1995 Weber BL, Abel KJ, Couch FJ, Merajver S, Castilla L, Brody LC, Collins FS. Transcript identification in the BRCA1 candidate region Breast Cancer Research and Treatment. 33: 115-124. PMID 7749139 DOI: 10.1007/Bf00682719  0.691
1995 Liu PP, Hajra A, Wijmenga C, Collins FS. Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia Blood. 85: 2289-2302. PMID 7727763 DOI: 10.1182/Blood.V85.9.2289.Bloodjournal8592289  0.563
1995 Couch FJ, Kiousis S, Castilla LH, Xu J, Chandrasekharappa SC, Chamberlain JS, Collins FS, Weber BL. Characterization of 10 new polymorphic dinucleotide repeats and generation of a high-density microsatellite-based physical map of the BRCA1 region of chromosome 17q21. Genomics. 24: 419-24. PMID 7713491 DOI: 10.1006/Geno.1994.1647  0.64
1995 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. 95: 451-4. PMID 7705845 DOI: 10.1007/Bf00208975  0.32
1995 Rotman G, Vanagaite L, Collins FS, Shiloh Y. Rapid identification of polymorphic CA-repeats in YAC clones Molecular Biotechnology. 3: 85-92. PMID 7620980 DOI: 10.1007/Bf02789104  0.317
1995 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. 26: 611-4. PMID 7607690 DOI: 10.1016/0888-7543(95)80185-O  0.501
1995 Hudson KL, Rothenberg KH, Andrews LB, Kahn MJ, Collins FS. Genetic discrimination and health insurance: an urgent need for reform. Science (New York, N.Y.). 270: 391-3. PMID 7569991 DOI: 10.1126/Science.270.5235.391  0.323
1995 Gutmann DH, Cole JL, Collins FS. Expression of the neurofibromatosis type 1 (NF1) gene during mouse embryonic development. Progress in Brain Research. 105: 327-35. PMID 7568895 DOI: 10.1016/S0079-6123(08)63311-7  0.307
1995 Morrow DM, Tagle DA, Shiloh Y, Collins FS, Hieter P. TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1 Cell. 82: 831-840. PMID 7545545 DOI: 10.1016/0092-8674(95)90480-8  0.328
1995 Asamoah A, North K, Doran S, Wagstaff J, Ogle R, Collins FS, Korf BR. 17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one. American Journal of Medical Genetics. 60: 312-6. PMID 7485267 DOI: 10.1002/Ajmg.1320600410  0.315
1995 Guyer MS, Collins FS. How is the Human Genome Project doing, and what have we learned so far? Proceedings of the National Academy of Sciences of the United States of America. 92: 10841-10848. PMID 7479895 DOI: 10.1073/Pnas.92.24.10841  0.347
1995 Russell M, Brody L, Munroe D, Dick M, Collins F. 407-2 Characterization of a Recombination Event Excluding the Harvey-ras-1 (H-ras-1) Locus in a Romano-Ward Long QT Syndrome Family Linked to Chromosome 11p15 and Isolation of a Polymorphic Repeat Telomeric to H-ras-1 Journal of the American College of Cardiology. 25: 1A. DOI: 10.1016/0735-1097(95)91473-B  0.308
1995 Brody L, Castilla L, Struewing J, Erdos M, Collins FS. Mechanisms of familial breast cancer causation Cancer Genetics and Cytogenetics. 84: 129. DOI: 10.1016/0165-4608(96)85212-5  0.608
1994 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 16p13.13-p13.12 and establishes a new region of conserved synteny between human 16p and mouse 16. Genomics. 18: 156-9. PMID 8276405 DOI: 10.1006/Geno.1993.1443  0.362
1994 Valdes JM, Tagle DA, Collins FS. Island rescue PCR: A rapid and efficient method for isolating transcribed sequences from yeast artificial chromosomes and cosmids Proceedings of the National Academy of Sciences of the United States of America. 91: 5377-5381. PMID 8202494 DOI: 10.1073/Pnas.91.12.5377  0.386
1994 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, et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34 Nature Genetics. 6: 197-204. PMID 8162075 DOI: 10.1038/Ng0294-197  0.596
1994 Chandrasekharappa SC, Friedman L, King SE, Lee YH, Welsch P, Bowcock AM, Weber BL, King MC, Collins FS. The gene for pancreatic polypeptide (PPY) and the anonymous marker D17S78 are within 45 kb of each other on chromosome 17q21. Genomics. 21: 458-60. PMID 8088848 DOI: 10.1006/Geno.1994.1299  0.386
1994 Legius E, Hall BK, Wallace MR, Collins FS, Glover TW. Ten base pair duplication in exon 38 of the NF1 gene. Human Molecular Genetics. 3: 829-30. PMID 8081372 DOI: 10.1093/Hmg/3.5.829  0.323
1994 Weber BL, Abel KJ, Brody LC, Flejter WL, Chandrasekharappa SC, Couch FJ, Merajver SD, Collins FS. Familial breast cancer: Approaching the isolation of a susceptibility gene Cancer. 74: 1013-1020. PMID 8039134 DOI: 10.1002/1097-0142(19940801)74:3+<1013::Aid-Cncr2820741507>3.0.Co;2-#  0.325
1994 Vanagaite L, Savitsky K, Rotman G, Ziv Y, Gerken SC, White R, Weissenbach J, Gillett G, Benham FJ, Richard CW, James MR, Collins FS, Shiloh Y. Physical localization of microsatellite markers at the ataxia-telangiectasia locus at 11q22-q23. Genomics. 22: 231-3. PMID 7959777 DOI: 10.1006/Geno.1994.1370  0.349
1994 Hajra A, Martin-Gallardo A, Tarlé SA, Freedman M, Wilson-Gunn S, Bernards A, Collins FS. DNA sequences in the promoter region of the NF1 gene are highly conserved between human and mouse. Genomics. 21: 649-52. PMID 7959746 DOI: 10.1006/Geno.1994.1328  0.36
1994 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 Nature Genetics. 8: 387-391. PMID 7894491 DOI: 10.1038/Ng1294-387  0.67
1994 Rotman G, Savitsky K, Ziv Y, Cole CG, Higgins MJ, Bar-Am I, Dunham I, Bar-Shira A, Vanagaite L, Qin S, Zhang J, Nowak NJ, Chandrasekharappa SC, Lehrach H, Avivi L, ... ... Collins FS, et al. A YAC contig spanning the ataxia-telangiectasia locus (groups A and C) at 11q22-q23. Genomics. 24: 234-42. PMID 7698744 DOI: 10.1006/Geno.1994.1611  0.363
1993 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. Human Molecular Genetics. 2: 489. PMID 8504314 DOI: 10.1093/Hmg/2.4.489  0.647
1993 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. Nature Genetics. 3: 122-6. PMID 8499945 DOI: 10.1038/Ng0293-122  0.58
1993 Andersen LB, Fountain JW, Gutmann DH, Tarlé SA, Glover TW, Dracopoli NC, Housman DE, Collins FS. Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines. Nature Genetics. 3: 118-21. PMID 8499944 DOI: 10.1038/Ng0293-118  0.318
1993 MacDonald ME, Ambrose CM, Duyao MP, Myers RH, Lin C, Srinidhi L, Barnes G, Taylor SA, James M, Groot N, MacFarlane H, Jenkins B, Anderson MA, Wexler NS, Gusella JF, ... ... Collins FS, et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Cell. 72: 971-983. PMID 8458085 DOI: 10.1016/0092-8674(93)90585-E  0.702
1993 Gutmann DH, Boguski M, Marchuk D, Wigler M, Collins FS, Ballester R. Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis. Oncogene. 8: 761-9. PMID 8437860  0.51
1993 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 of which have GTPase-activating protein activity. Molecular and Cellular Biology. 13: 487-95. PMID 8417346 DOI: 10.1128/Mcb.13.1.487  0.57
1993 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. Cytogenetics and Cell Genetics. 64: 222-3. PMID 8404043 DOI: 10.1159/000133581  0.321
1993 Andersen LB, Tarlé SA, Marchuk DA, Legius E, Collins FS. A compound nucleotide repeat in the neurofibromatosis (NF1) gene. Human Molecular Genetics. 2: 1083. PMID 8364559 DOI: 10.1093/Hmg/2.7.1083-A  0.553
1993 Tagle DA, Blanchard-McQuate KL, Valdes J, Castilla L, Collins FS. Dinucleotide repeat polymorphisms at the D4S126 and D4S114 loci. Human Molecular Genetics. 2: 1077. PMID 8364551 DOI: 10.1093/Hmg/2.7.1077  0.655
1993 Liu P, Tarlé SA, Hajra A, Claxton DF, Marlton P, Freedman M, Siciliano MJ, Collins FS. Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science (New York, N.Y.). 261: 1041-4. PMID 8351518 DOI: 10.1126/Science.8351518  0.303
1993 Chandrasekharappa SC, King SE, Freedman ML, Hayes ST, Bowcock AM, Collins FS. The CA repeat marker D17S791 is located within 40 kb of the WNT3 gene on chromosome 17q. Genomics. 18: 728-9. PMID 8307586 DOI: 10.1016/S0888-7543(05)80386-6  0.366
1993 Colman SD, Collins FS, Wallace MR. Characterization of a single base-pair deletion in neurofibromatosis type 1 Human Molecular Genetics. 2: 1709-1711. PMID 8268926 DOI: 10.1093/Hmg/2.10.1709  0.345
1993 Abel KJ, Boehnke M, Prahalad M, Ho P, Flejter WL, Watkins M, VanderStoep J, Chandrasekharappa SC, Collins FS, Glover TW. A radiation hybrid map of the BRCA1 region of chromosome 17q12-q21. Genomics. 17: 632-41. PMID 8244380 DOI: 10.1006/Geno.1993.1383  0.339
1993 Gutmann DH, Collins FS. Neurofibromatosis Type 1: Beyond Positional Cloning Archives of Neurology. 50: 1185-1193. PMID 8215978 DOI: 10.1001/Archneur.1993.00540110065007  0.363
1993 Reyniers E, De Boulle K, Marchuk DA, Andersen LB, Collins FS, Willems PJ. An EcoRI RFLP in the 5' region of the human NF1 gene. Human Genetics. 92: 631. PMID 7903272 DOI: 10.1007/Bf00420953  0.569
1993 Drumm ML, Collins FS. Molecular biology of cystic fibrosis Molecular Genetic Medicine. 3: 33-68. PMID 7693108 DOI: 10.1016/B978-0-12-462003-2.50006-7  0.343
1993 Chandrasekharappa SC, Gross LA, King SE, Collins FS. The human NME2 gene lies within 18kb of NME1 in chromosome 17 Genes Chromosomes and Cancer. 6: 245-248. PMID 7685630 DOI: 10.1002/Gcc.2870060411  0.366
1993 Strong TV, Wilkinson DJ, Monsoura 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 Human Molecular Genetics. 2: 225-230. PMID 7684641 DOI: 10.1093/Hmg/2.3.225  0.301
1992 Chandrasekharappa SC, Marchuk DA, Collins FS. Analysis of yeast artificial chromosome clones. Methods in Molecular Biology (Clifton, N.J.). 12: 235-57. PMID 21409638 DOI: 10.1385/0-89603-229-9:235  0.597
1992 Marchuk DA, Tavakkol R, Wallace MR, Brownstein BH, Taillon-Miller P, Fong CT, Legius E, Andersen LB, Glover TW, Collins FS. A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. Genomics. 13: 672-80. PMID 1639394 DOI: 10.1016/0888-7543(92)90140-N  0.593
1992 Gusella JF, Altherr MR, McClatchey AI, Doucette-Stamm LA, Tagle D, Plummer S, Groot N, Barnes G, Hummerich H, Collins FS. Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region. Genomics. 13: 75-80. PMID 1533609 DOI: 10.1016/0888-7543(92)90204-6  0.372
1992 Legius E, Marchuk DA, Hall BK, Andersen LB, Wallace MR, Collins FS, Glover TW. NF1-related locus on chromosome 15. Genomics. 13: 1316-8. PMID 1505963 DOI: 10.1016/0888-7543(92)90055-W  0.584
1992 Gumucio DL, Heilstedt-Williamson H, Gray TA, Tarlé 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 γ and ε globin genes Molecular and Cellular Biology. 12: 4919-4929. PMID 1406669 DOI: 10.1128/mcb.12.11.4919-4929.1992  0.341
1992 Collins FS. Cystic fibrosis: Molecular biology and therapeutic implications Science. 256: 774-779. PMID 1375392 DOI: 10.1126/Science.1375392  0.312
1992 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. 14: 369-76. PMID 1358802 DOI: 10.1016/S0888-7543(05)80228-9  0.589
1992 McCombie WR, Martin-Gallardo A, Gocayne JD, FitzGerald M, Dubnick M, Kelley JM, Castilla L, Liu LI, Wallace S, Trapp S, Tagle D, Whaley WL, Cheng S, Gusella J, Frischauf AM, ... ... Collins FS, et al. Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3 Nature Genetics. 1: 348-353. PMID 1338771 DOI: 10.1038/Ng0892-348  0.7
1992 Martin-Gallardo A, Marchuk DA, Gocayne J, Kerlavage AR, McCombie WR, Venter JC, Collins FS, Wallace MR. Sequencing and analysis of genomic fragments from the NF1 locus. Dna Sequence : the Journal of Dna Sequencing and Mapping. 3: 237-43. PMID 1338369 DOI: 10.3109/10425179209034023  0.587
1992 Strong TV, Smit LS, Nasr S, Wood DL, Cole JL, Iannuzzi MC, Stern RC, Collins FS. Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Mutation. 1: 380-7. PMID 1284540 DOI: 10.1002/Humu.1380010506  0.354
1991 Marchuk D, Drumm M, Saulino A, Collins FS. Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucleic Acids Research. 19: 1154. PMID 2020552 DOI: 10.1093/Nar/19.5.1154  0.502
1991 Collins FS. The Genome Project and human health Faseb Journal. 5: 77. PMID 1991592 DOI: 10.1096/Fasebj.5.1.1991592  0.349
1991 Collins FS. Identification of disease genes: Recent successes Hospital Practice. 26: 93-98. PMID 1918209 DOI: 10.1080/21548331.1991.11705307  0.347
1991 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. 10: 905-914. PMID 1916822 DOI: 10.1016/0888-7543(91)90178-H  0.304
1991 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 NF1 gene product. Genomics. 11: 931-40. PMID 1783401 DOI: 10.1016/0888-7543(91)90017-9  0.599
1991 Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS. A de novo Alu insertion results in neurofibromatosis type 1. Nature. 353: 864-6. PMID 1719426 DOI: 10.1038/353864A0  0.347
1991 Ton CCT, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T, van Heyningen V, Hastie ND, Meijers-Heijboer H, Drechsler M, Royer-Pokora B, Collins F, Swaroop A, Strong LC, Saunders GF. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region Cell. 67: 1059-1074. PMID 1684738 DOI: 10.1016/0092-8674(91)90284-6  0.537
1991 Andersen LB, Wallace MR, Marchuk DA, Tavakkol R, Mitchell A, Saulino AM, Collins FS. A highly polymorphic cDNA probe in the NF1 gene. Nucleic Acids Research. 19: 3754. PMID 1677185 DOI: 10.1093/Nar/19.13.3754  0.571
1991 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 NF1 gene [D17S376]. Nucleic Acids Research. 19: 197. PMID 1672744 DOI: 10.1093/nar/19.1.197-a  0.527
1990 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 17p13.3 Genomics. 7: 264-269. PMID 2347590 DOI: 10.1016/0888-7543(90)90549-A  0.322
1990 Merry DE, Lesko JG, Siu V, Funtoff WF, Collins F, Lewis RA, Nussbaum RL. DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation Genomics. 6: 609-615. PMID 2341150 DOI: 10.1016/0888-7543(90)90494-F  0.349
1990 Lemna WK, Feldman GL, Kerem B, Fernbach SD, Zevkovich EP, O'Brien WE, Riordan JR, Collins FS, Tsui LC, Beaudet AL. Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. The New England Journal of Medicine. 322: 291-6. PMID 2296270 DOI: 10.1056/Nejm199002013220503  0.329
1990 Tanaka M, Nolan JA, Bhargava AK, Rood K, Collins FS, Weissman SM, Forget BG, Chamberlain JW. Expression of human globin genes in transgenic mice carrying the beta-globin gene cluster with a mutation causing G gamma beta + hereditary persistence of fetal hemoglobin. Annals of the New York Academy of Sciences. 612: 167-78. PMID 2291546 DOI: 10.1111/J.1749-6632.1990.Tb24303.X  0.501
1990 Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proceedings of the National Academy of Sciences of the United States of America. 87: 8447-51. PMID 2236053 DOI: 10.1073/Pnas.87.21.8447  0.328
1990 Wallace MR, Andersen LB, Fountain JW, Odeh HM, Viskochil D, Marchuk DA, O'Connell P, White R, Collins FS. A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region. Genes, Chromosomes & Cancer. 2: 271-7. PMID 2176541 DOI: 10.1002/Gcc.2870020404  0.586
1990 Bu?an M, Zimmer M, Whaley WL, Poustka A, Youngman S, Allitto BA, Ormondroyd E, Smith B, Pohl TM, MacDonald M, Bates GP, Richards J, Volinia S, Gilliam TC, Sedlacek Z, ... Collins FS, et al. Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation Genomics. 6: 1-15. PMID 2137426 DOI: 10.1016/0888-7543(90)90442-W  0.361
1990 Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Brownstein BH, Collins FS. Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients Science. 249: 181-186. PMID 2134734 DOI: 10.1126/Science.2134734  0.609
1990 Ballester R, Marchuk D, Boguski M, Saulino A, Letcher R, Wigler M, Collins F. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell. 63: 851-9. PMID 2121371 DOI: 10.1016/0092-8674(90)90151-4  0.556
1990 O'Connell P, Viskochil D, Buchberg AM, Fountain J, Cawthon RM, Culver M, Stevens J, Rich DC, Ledbetter DH, Wallace M, Carey JC, Jenkins NA, Copeland NG, Collins FS, White R. The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. Genomics. 7: 547-554. PMID 2117565 DOI: 10.1016/0888-7543(90)90198-4  0.368
1990 Rabbitts P, Bergh J, Douglas J, Collins F, Water J. A submicroscopic homozygous deletion at the D3S3 locus in a cell line isolated from a small cell lung carcinoma Genes, Chromosomes and Cancer. 2: 231-238. PMID 1981839 DOI: 10.1002/Gcc.2870020312  0.32
1990 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. Nucleic Acids Research. 18: 345-50. PMID 1970161 DOI: 10.1093/Nar/18.2.345  0.385
1990 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 of chromosome 17 [D17S251] Nucleic Acids Research. 18: 1087-1087. PMID 1969146 DOI: 10.1093/Nar/18.4.1087  0.312
1990 Collins FS, Riordan JR, Tsui LC. The cystic fibrosis gene: Isolation and significance Hospital Practice. 25: 47-57. PMID 1698801 DOI: 10.1080/21548331.1990.11704019  0.348
1990 Donlon TA, Krensky AM, Wallace MR, Collins FS, Lovett M, Clayberger C. Localization of a human T-cell-specific gene, RANTES (D17S136E), to chromosome 17q11.2-q12. Genomics. 6: 548-53. PMID 1691736 DOI: 10.1016/0888-7543(90)90485-D  0.354
1990 Iannuzzi MC, Collins FS. Reverse genetics and cystic fibrosis American Journal of Respiratory Cell and Molecular Biology. 2: 309-316. PMID 1691007 DOI: 10.1165/Ajrcmb/2.4.309  0.37
1990 Gumucio DL, Lockwood WK, Weber JL, Saulino AM, Delgrosso K, Surrey S, Schwartz E, Goodman M, Collins FS. The -175T → C mutation increases promoter strength in erythroid cells: Correlation with evolutionary conservation of binding sites for two trans-acting factors Blood. 75: 756-761. PMID 1688723 DOI: 10.1182/Blood.V75.3.756.Bloodjournal753756  0.324
1990 Wallace MR, Marchuk DA, Andersen LB, Collins FS. In Reply: Type 1 Neurofibromatosis Gene: Correction Science. 250: 1749-1749. DOI: 10.1126/Science.250.4988.1749-B  0.559
1989 Iannuzzi MC, Weber JL, Yankaskas J, Boucher R, Collins FS. The introduction of biologically active foreign genes into human respiratory epithelial cells using electroporation. The American Review of Respiratory Disease. 138: 965-8. PMID 2849346 DOI: 10.1164/Ajrccm/138.4.965  0.317
1989 Wallace MR, Fountain JW, Brereton AM, Collins FS. Direct construction of a chromosome-specific Noti linking library from flow-sorted chromosomes Nucleic Acids Research. 17: 1665-1677. PMID 2784207 DOI: 10.1093/Nar/17.4.1665  0.318
1989 Dean M, Stewart C, Perry A, Gerrard B, Beck T, Rapp U, Drumm M, Iannuzzi M, Collins F, O'Brien S. Genetic markers for oncogenes, growth factors, and cystic fibrosis Hamatologie Und Bluttransfusion. 32: 360-365. PMID 2576235 DOI: 10.1007/978-3-642-74621-5_63  0.374
1989 Fountain JW, Wallace MR, Bruce MA, Seizinger BR, Menon AG, Gusella JF, Michels VV, Schmidt MA, Dewald GW, Collins FS. Physical mapping of a translocation breakpoint in neurofibromatosis Science. 244: 1085-1087. PMID 2543076 DOI: 10.1126/Science.2543076  0.332
1989 Collins FS, O'Connell P, Ponder BAJ, Seizinger BR. Progress towards identifying the neurofibromatosis (NF1) gene Trends in Genetics. 5: 217-221. PMID 2506682 DOI: 10.1016/0168-9525(89)90085-1  0.354
1988 Kenwrick SJ, Smith TJ, England S, Collins F, Davies KE. Localisation of the endpoints of deletions in the 5′ region of the duchenne gene using a sequence isolated by chromosome jumping Nucleic Acids Research. 16: 1305-1317. PMID 3347492 DOI: 10.1093/Nar/16.4.1305  0.396
1988 Engelke DR, Hoener PA, Collins FS. Direct sequencing of enzymatically amplified human genomic DNA Proceedings of the National Academy of Sciences of the United States of America. 85: 544-548. PMID 3267215 DOI: 10.1073/Pnas.85.2.544  0.338
1988 Marchuk D, Collins FS. pYAC-RC, a yeast artificial chromosome vector for cloning DNA cut with infrequently cutting restriction endonucleases. Nucleic Acids Research. 16: 7743. PMID 3045765 DOI: 10.1093/Nar/16.15.7743  0.537
1988 Richards JE, Gilliam TC, Cole JL, Drumm ML, Wasmuth JJ, Gusella JF, Collins FS. Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. Proceedings of the National Academy of Sciences of the United States of America. 85: 6437-41. PMID 2901098 DOI: 10.1073/Pnas.85.17.6437  0.367
1988 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. 2: 346-54. PMID 2851537 DOI: 10.1016/0888-7543(88)90024-9  0.33
1988 Gumucio DL, Rood KL, Gray TA, Riordan MF, Sartor CI, Collins FS. Nuclear proteins that bind the human gamma-globin gene promoter: alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin. Molecular and Cellular Biology. 8: 5310-22. PMID 2468996 DOI: 10.1128/mcb.8.12.5310-5322.1988  0.302
1987 Diehl SR, Boehnke M, 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. Journal of Medical Genetics. 24: 532-4. PMID 3118034 DOI: 10.1136/Jmg.24.9.532  0.349
1987 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 (New York, N.Y.). 235: 1046-9. PMID 2950591 DOI: 10.1126/Science.2950591  0.394
1987 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. 1: 353-7. PMID 2896629 DOI: 10.1016/0888-7543(87)90037-1  0.329
1987 Iannuzzi MC, Konkle BA, Ginsburg D, Collins FS. Rsai RFLP in the human von willebrand factor gene Nucleic Acids Research. 15: 5909. PMID 2886983 DOI: 10.1093/Nar/15.16.6766  0.319
1987 Smith CL, Lawrance SK, Gillespie GA, Cantor CR, Weissman SM, Collins FS. Strategies for mapping and cloning macroregions of mammalian genomes Methods in Enzymology. 151: 461-489. PMID 2828836 DOI: 10.1016/S0076-6879(87)51038-2  0.514
1987 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. 70: 1797-803. PMID 2445400 DOI: 10.1182/Blood.V70.6.1797.Bloodjournal7061797  0.31
1986 Metherall JE, Collins FS, Pan J, Weissman SM, Forget BG. Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron Embo Journal. 5: 2551-2557. PMID 3780671 DOI: 10.1002/J.1460-2075.1986.Tb04534.X  0.473
1986 Lawrence SK, Srivastava R, Rigas B, Chorney MJ, Gillespie GA, Smith CL, Cantor CR, Collins FS, Weissman SM. Molecular approaches to the characterization of megabase regions of DNA: Applications to the human major histocompatibility complex Cold Spring Harbor Symposia On Quantitative Biology. 51: 123-130. PMID 3472708 DOI: 10.1101/Sqb.1986.051.01.015  0.455
1985 Collins FS, Metherall JE, Yamakawa M, Pan J, Weissman SM, Forget BG. A point mutation in the Aγ-globin gene promoter in Greek hereditary persistence of fetal haemoglobin Nature. 313: 325-326. PMID 2578620 DOI: 10.1038/313325A0  0.522
1985 Feingold EA, Collins FS, Metherall JE, Stoeckert CJ, Weissman SM, Forget BG. Analysis of mutations associated with deletion and nondeletion hereditary persistence of fetal hemoglobin Progress in Clinical and Biological Research. 191: 107-124. PMID 2413468  0.396
1985 Feingold EA, Collins FS, Metherall JE, Stoeckert CJ, Weissman SM, Forget BG. Molecular analysis of deletion and nondeletion hereditary persistence of fetal hemoglobin and identification of a new mutation causing beta-thalassemia. Annals of the New York Academy of Sciences. 445: 159-69. PMID 2409868 DOI: 10.1111/J.1749-6632.1985.Tb17185.X  0.381
1984 Collins FS, Weissman SM. The molecular genetics of human hemoglobin Progress in Nucleic Acid Research and Molecular Biology. 31: 315-462. PMID 6397774  0.396
1984 Stoeckert CJ, Collins FS, Weissman SM. Human fetal globin DNA sequences suggest novel conversion event Nucleic Acids Research. 12: 4469-4479. PMID 6330670 DOI: 10.1093/nar/12.11.4469  0.45
1984 Collins FS, Boehm CD, Waber PG, Stoeckert CJ, Weissman SM, Forget BG, Kazazian HH. Concordance of a point mutation 5' to the (G)γ globin gene with (G)γβ+ hereditary persistence of fetal hemoglobin in the black population Blood. 64: 1292-1296. PMID 6208955  0.42
1984 Collins FS, Stoeckert CJ, Serjeant GR, Forget BG, Weissman SM. (G)γβ+ Hereditary persistence of fetal hemoglobin: Cosmid cloning and identification of a specific mutation 5' to the (G)γ gene Proceedings of the National Academy of Sciences of the United States of America. 81: 4894-4898. PMID 6205403 DOI: 10.1073/Pnas.81.15.4894  0.515
1984 Collins FS, Weissman SM. Directional cloning of DNA fragments at a large distance from an initial probe: A circularization method Proceedings of the National Academy of Sciences of the United States of America. 81: 6812-6816. PMID 6093122 DOI: 10.1073/Pnas.81.21.6812  0.492
1984 Collins F, Boehm C, Waber P, Stoeckert CJ, Weissman S, Forget B, Kazazian HJ. Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population Blood. 64: 1292-1296. DOI: 10.1182/Blood.V64.6.1292.1292  0.486
1983 Fukumaki Y, Collins F, Kole R, Stoeckert C, Jagadeeswaran P, Duncan C, Weissman S. Sequences of Human Repetitive DNA, Non- -globin Genes, and Major Histocompatibility Locus Genes: I. Repeated-sequence DNA Cold Spring Harbor Symposia On Quantitative Biology. 47: 1079-1086. DOI: 10.1101/Sqb.1983.047.01.120  0.51
1974 Collins FS, Preston RK, Cross RJ. Vibrationally inelastic scattering of H+ + H2 Chemical Physics Letters. 25: 608-610. DOI: 10.1016/0009-2614(74)85381-9  0.566
Low-probability matches (unlikely to be authored by this person)
2016 Walford GA, Gustafsson S, Rybin D, Stančáková A, Chen H, Liu CT, Hong J, Jensen RA, Rice K, Morris AP, Mägi R, Tönjes A, Prokopenko I, Kleber ME, Delgado G, ... ... Collins FS, et al. Genome-wide association study of the modified Stumvoll Insulin Sensitivity Index identifies BCL2 and FAM19A2 as novel insulin sensitivity loci. Diabetes. PMID 27416945 DOI: 10.2337/Db16-0199  0.3
1993 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 Jama. 269: 1970-1974. DOI: 10.1001/Jama.1993.03500150082032  0.3
2013 Daniels ML, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, Dell SD, Eriksson M, Collins FS, Knowles MR, Zariwala MA. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Human Mutation. 34: 1352-6. PMID 23798057 DOI: 10.1002/Humu.22371  0.3
1988 Roth, Collins F, Ginsburg D. Sizing of the human T cell receptor alpha locus and detection of a large deletion in the Molt-4 cell line. Blood. 71: 1744-1747. DOI: 10.1182/Blood.V71.6.1744.1744  0.299
2010 Hamburg MA, Collins FS. The path to personalized medicine New England Journal of Medicine. 363: 301-304. PMID 20551152 DOI: 10.1056/Nejmp1006304  0.298
1998 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, ... ... Collins FS, et al. Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1). Journal of Internal Medicine. 243: 447-53. PMID 9681842 DOI: 10.1046/J.1365-2796.1998.00348.X  0.298
1993 Decker RA, Collins FS. Dinucleotide repeat polymorphism at the D10S469 locus Human Molecular Genetics. 2: 1330. PMID 8401525 DOI: 10.1093/Hmg/2.8.1330-A  0.297
2019 Narisu N, Rothwell R, Vrtačnik P, Rodríguez S, Didion J, Zöllner S, Erdos MR, Collins FS, Eriksson M. Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts. Aging Cell. e13010. PMID 31385397 DOI: 10.1111/Acel.13010  0.297
1992 Basu TN, Gutmann DH, Fletcher JA, Glover TW, Collins FS, Downward J. Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature. 356: 713-5. PMID 1570015 DOI: 10.1038/356713A0  0.297
1993 Gregory PE, Gutmann DH, Mitchell A, Park S, Boguski M, Jacks T, Wood DL, Jove R, Collins FS. Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules. Somatic Cell and Molecular Genetics. 19: 265-74. PMID 8332934 DOI: 10.1007/Bf01233074  0.297
2003 Crabtree JS, Scacheri PC, Ward JM, McNally SR, Swain GP, Montagna C, Hager JH, Hanahan D, Edlund H, Magnuson MA, Garrett-Beal L, Burns AL, Ried T, Chandrasekharappa SC, Marx SJ, ... ... Collins FS, et al. Of mice and MEN1: Insulinomas in a conditional mouse knockout. Molecular and Cellular Biology. 23: 6075-85. PMID 12917331 DOI: 10.1128/Mcb.23.17.6075-6085.2003  0.296
2007 Schwartz D, Collins F. Medicine. Environmental biology and human disease. Science (New York, N.Y.). 316: 695-6. PMID 17478705 DOI: 10.1126/Science.1141331  0.296
2011 Bobb JF, Scharfstein DO, Daniels MJ, Collins FS, Kelada S. Multiple imputation of missing phenotype data for QTL mapping. Statistical Applications in Genetics and Molecular Biology. 10: Article 29. PMID 24683667 DOI: 10.2202/1544-6115.1676  0.296
2008 Sethupathy P, Collins FS. MicroRNA target site polymorphisms and human disease. Trends in Genetics : Tig. 24: 489-97. PMID 18778868 DOI: 10.1016/J.Tig.2008.07.004  0.295
2016 Bar DZ, Arlt MF, Brazier JF, Norris WE, Campbell SE, Chines P, Larrieu D, Jackson SP, Collins FS, Glover TW, Gordon LB. A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. Journal of Medical Genetics. PMID 27920058 DOI: 10.1136/Jmedgenet-2016-104295  0.295
1993 Gutmann DH, Collins FS. The neurofibromatosis type 1 gene and its protein product, neurofibromin Neuron. 10: 335-343. PMID 8461130 DOI: 10.1016/0896-6273(93)90324-K  0.295
1994 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. 21: 444-446. PMID 8088842 DOI: 10.1006/Geno.1994.1293  0.294
1992 Gutmann DH, Collins FS. Recent progress toward understanding the molecular biology of von Recklinghausen neurofibromatosis Annals of Neurology. 31: 555-561. PMID 1596091 DOI: 10.1002/Ana.410310515  0.293
2015 Vahedi G, Kanno Y, Furumoto Y, Jiang K, Parker SC, Erdos MR, Davis SR, Roychoudhuri R, Restifo NP, Gadina M, Tang Z, Ruan Y, Collins FS, Sartorelli V, O'Shea JJ. Super-enhancers delineate disease-associated regulatory nodes in T cells. Nature. 520: 558-62. PMID 25686607 DOI: 10.1038/Nature14154  0.293
1999 Ghosh S, Langefeld CD, Ally D, Watanabe RM, Hauser ER, Magnuson VL, Nylund SJ, Valle T, Eriksson J, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. The W64R variant of the beta3-adrenergic receptor is not associated with type II diabetes or obesity in a large Finnish sample. Diabetologia. 42: 238-44. PMID 10064105 DOI: 10.1007/S001250051144  0.293
1999 Collins FS. Hip, hip, array: Imagining genomics in the next millenium Nature Genetics. 23: 11. DOI: 10.1038/14220  0.292
2000 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, ... ... Collins F, et al. Recruitment experience in the first phase of the African American Hereditary Prostate Cancer (AAHPC) study Annals of Epidemiology. 10. PMID 11189095 DOI: 10.1016/S1047-2797(00)00194-0  0.292
2003 Fang NY, Greiner TC, Weisenburger 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. Proceedings of the National Academy of Sciences of the United States of America. 100: 5372-7. PMID 12697903 DOI: 10.1073/Pnas.0831102100  0.292
2018 Collins FS, Gottlieb S. The Next Phase of Human Gene-Therapy Oversight. The New England Journal of Medicine. PMID 30110242 DOI: 10.1056/Nejmp1810628  0.291
1993 Collins F, Galas D. A new five-year plan for the U.S. Human Genome Project. Science (New York, N.Y.). 262: 43-6. PMID 8211127 DOI: 10.1126/Science.8211127  0.291
1999 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. 96: 143-52. PMID 9989505 DOI: 10.1016/S0092-8674(00)80967-8  0.29
2005 Chen Y, Kittles R, Zhou J, Chen G, Adeyemo A, Panguluri RK, Chen W, Amoah A, Opoku V, Acheampong J, Agyenim-Boateng K, Eghan BA, Nyantaki A, Oli J, Okafor G, ... ... Collins FS, et al. Calpain-10 gene polymorphisms and type 2 diabetes in West Africans: the Africa America Diabetes Mellitus (AADM) Study. Annals of Epidemiology. 15: 153-9. PMID 15652721 DOI: 10.1016/J.Annepidem.2004.05.014  0.289
2013 Collins FS, Hamburg MA. First FDA authorization for next-generation sequencer. The New England Journal of Medicine. 369: 2369-71. PMID 24251383 DOI: 10.1056/Nejmp1314561  0.289
1993 Tagle DA, Swaroop M, Lovett M, Collins FS. Magnetic bead capture of expressed sequences encoded within large genomic segments. Nature. 361: 751-3. PMID 8441473 DOI: 10.1038/361751A0  0.288
2009 Khoury MJ, McBride CM, Schully SD, Ioannidis JP, Feero WG, Janssens AC, Gwinn M, Simons-Morton DG, Bernhardt JM, Cargill M, Chanock SJ, Church GM, Coates RJ, Collins FS, Croyle RT, et al. The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11: 559-67. PMID 19617843 DOI: 10.1097/Gim.0B013E3181B13A6C  0.288
1996 Russell MW, Dick M, Collins FS, Brody LC. KVLQT1 mutations in three families with familial or sporadic long QT syndrome Human Molecular Genetics. 5: 1319-1324. PMID 8872472 DOI: 10.1093/Hmg/5.9.1319  0.288
1994 Gutmann DH, Cole JL, Stone WJ, Ponder BA, Collins FS. Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I. Genes, Chromosomes & Cancer. 10: 55-8. PMID 7519874 DOI: 10.1002/Gcc.2870100109  0.287
2017 Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, ... ... Collins FS, et al. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Communications. 8: 16077. PMID 28681861 DOI: 10.1038/Ncomms16077  0.287
1993 Gutman DH, Andersen LB, Cole JL, Swaroop M, Collins FS. An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle. Human Molecular Genetics. 2: 989-92. PMID 8364582 DOI: 10.1093/Hmg/2.7.989  0.287
1995 Collins FS. Ahead of schedule and under budget: The Genome Project passes its fifth birthday Proceedings of the National Academy of Sciences of the United States of America. 92: 10821-10823. PMID 7479891 DOI: 10.1073/Pnas.92.24.10821  0.287
1993 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. Human Molecular Genetics. 2: 1253-61. PMID 7691345 DOI: 10.1093/Hmg/2.8.1253  0.287
2008 Capell BC, Olive M, Erdos MR, Cao K, Faddah DA, Tavarez UL, Conneely KN, Qu X, San H, Ganesh SK, Chen X, Avallone H, Kolodgie FD, Virmani R, Nabel EG, ... Collins FS, et al. A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model. Proceedings of the National Academy of Sciences of the United States of America. 105: 15902-7. PMID 18838683 DOI: 10.1073/Pnas.0807840105  0.286
1994 Collins FS, Benjamin LJ, Botstein D, Cox JR, Davidson N, Gray JW, Housman DE, Holtzman N, Jamison KR, Rothstein R, Smith DC, Smith LM, Spence MA, Tilghman SM. Statement on Use of DNA Testing for Presymptomatic Identification of Cancer Risk Jama: the Journal of the American Medical Association. 271: 785. PMID 8114217 DOI: 10.1001/Jama.1994.03510340075038  0.286
1996 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. 21: 700-9. PMID 8891224 DOI: 10.2144/96214Rr03  0.285
2004 Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB, Mullendore ME, Whitten I, Skarulis MC, Simonds WF, Mateo C, Crabtree JS, Scacheri PC, Ji Y, Novotny EA, ... ... Collins FS, et al. Molecular pathology of the MEN1 gene. Annals of the New York Academy of Sciences. 1014: 189-98. PMID 15153434 DOI: 10.1196/Annals.1294.020  0.285
2005 Adeyemo AA, Johnson T, Acheampong J, Oli J, Okafor G, Amoah A, Owusu S, Agyenim-Boateng K, Eghan BA, Abbiyesuku F, Fasanmade O, Rufus T, Doumatey A, Chen G, Zhou J, ... ... Collins F, et al. A genome wide quantitative trait linkage analysis for serum lipids in type 2 diabetes in an African population. Atherosclerosis. 181: 389-97. PMID 16039295 DOI: 10.1016/J.Atherosclerosis.2004.12.049  0.285
2003 Guttmacher AE, Collins FS. Welcome to the genomic era New England Journal of Medicine. 349: 996-998. PMID 12954750 DOI: 10.1056/Nejme038132  0.285
2002 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. Proceedings of the National Academy of Sciences of the United States of America. 99: 16928-33. PMID 12482934 DOI: 10.1073/Pnas.262661399  0.285
2014 Rees MG, Davis MI, Shen M, Titus S, Raimondo A, Barrett A, Gloyn AL, Collins FS, Simeonov A. A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease. Plos One. 9: e89335. PMID 24586696 DOI: 10.1371/Journal.Pone.0089335  0.285
1997 Highsmith WE, Burch LH, Zhou Z, Olsen JC, Strong TV, Smith T, Friedman KJ, Silverman 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. 9: 332-8. PMID 9101293 DOI: 10.1002/(Sici)1098-1004(1997)9:4<332::Aid-Humu5>3.0.Co;2-7  0.284
2013 Mahendran Y, Vangipurapu J, Cederberg H, Stancáková A, Pihlajamäki J, Soininen P, Kangas AJ, Paananen J, Civelek M, Saleem NK, Pajukanta P, Lusis AJ, Bonnycastle LL, Morken MA, Collins FS, et al. Association of ketone body levels with hyperglycemia and type 2 diabetes in 9,398 Finnish men. Diabetes. 62: 3618-26. PMID 23557707 DOI: 10.2337/Db12-1363  0.284
2010 Hudson TJ, Anderson W, Artez A, Barker AD, Bell C, Bernabé RR, Bhan MK, Calvo F, Eerola I, Gerhard DS, Guttmacher A, Guyer M, Hemsley FM, Jennings JL, ... ... Collins FS, ... ... Collins FS, et al. International network of cancer genome projects. Nature. 464: 993-8. PMID 20393554 DOI: 10.1038/Nature08987  0.283
1993 Smit LS, 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. Proceedings of the National Academy of Sciences of the United States of America. 90: 9963-7. PMID 7694298 DOI: 10.1073/Pnas.90.21.9963  0.283
2004 Collins FS. What we do and don't know about 'race', 'ethnicity', genetics and health at the dawn of the genome era Nature Genetics. 36. PMID 15507997 DOI: 10.1038/Ng1436  0.283
2017 Zillikens MC, Demissie S, Hsu YH, Yerges-Armstrong LM, Chou WC, Stolk L, Livshits G, Broer L, Johnson T, Koller DL, Kutalik Z, Luan J, Malkin I, Ried JS, Smith AV, ... ... Collins F, et al. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. Nature Communications. 8: 80. PMID 28724990 DOI: 10.1038/S41467-017-00031-7  0.282
1990 Drumm ML, Pope HA, Cliff WH, Rommens JM, Marvin SA, Tsui LC, Collins FS, Frizzell RA, Wilson JM. Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell. 62: 1227-33. PMID 1698126 DOI: 10.1016/0092-8674(90)90398-X  0.282
1998 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-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online. Human Mutation. 11: 411. PMID 10336779 DOI: 10.1002/(Sici)1098-1004(1998)11:5<411::Aid-Humu11>3.0.Co;2-2  0.281
2010 Feero WG, Guttmacher AE, Collins FS. Genomic medicine - An updated primer New England Journal of Medicine. 362: 2001-2011. PMID 20505179 DOI: 10.1056/Nejmra0907175  0.281
2014 Dimas AS, Lagou V, Barker A, Knowles JW, Mägi R, Hivert MF, Benazzo A, Rybin D, Jackson AU, Stringham HM, Song C, Fischer-Rosinsky A, Boesgaard TW, Grarup N, Abbasi FA, ... ... Collins FS, et al. Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity. Diabetes. 63: 2158-71. PMID 24296717 DOI: 10.2337/Db13-0949  0.28
1986 Waber P, Bender M, Gelinas R, Kattamis C, Karaklis A, Sofroniadou K, Stamatoyannopoulos G, Collins F, Forget B, Kazazian HJ. Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks Blood. 67: 551-554. DOI: 10.1182/Blood.V67.2.551.551  0.28
2001 Crabtree JS, Scacheri PC, Ward JM, Garrett-Beal L, Emmert-Buck MR, Edgemon KA, Lorang D, Libutti SK, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS. A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proceedings of the National Academy of Sciences of the United States of America. 98: 1118-23. PMID 11158604 DOI: 10.1073/Pnas.98.3.1118  0.28
1988 Fountain JW, Lockwood WK, Collins FS. Transfection of primary human skin fibroblasts by electroporation Gene. 68: 167-172. PMID 2851491 DOI: 10.1016/0378-1119(88)90610-5  0.28
2012 Perry JR, Voight BF, Yengo L, Amin N, Dupuis J, Ganser M, Grallert H, Navarro P, Li M, Qi L, Steinthorsdottir V, Scott RA, Almgren P, Arking DE, Aulchenko Y, ... ... Collins FS, et al. Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. Plos Genetics. 8: e1002741. PMID 22693455 DOI: 10.1371/Journal.Pgen.1002741  0.279
2019 SENGUPTA S, BONNYCASTLE LL, HASTOY B, GROTZ A, UMAPATHYSIVAM MM, RAIMONDO A, SWIFT A, CHINES PS, CLARK A, HUOPIO H, COLLINS FS, LAAKSO M, GLOYN AL. 25-OR: Investigating a Candidate Causal Allele in Type 2 Diabetes Susceptibility Gene PAM as a Cause of Neonatal Diabetes Mellitus Diabetes. 68: 25-OR. DOI: 10.2337/Db19-25-Or  0.279
2009 Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt EE, Kaplan L, Bennett D, Li Y, Tanaka T, Voight BF, Bonnycastle LL, Jackson AU, Crawford G, Surti A, ... ... Collins FS, et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nature Genetics. 41: 56-65. PMID 19060906 DOI: 10.1038/Ng.291  0.279
2002 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 Nature Genetics. 31: 385-390. PMID 12091911 DOI: 10.1038/Ng931  0.279
2007 Lowrance WW, Collins FS. Identifiability in genomic research Science. 317: 600-602. PMID 17673640 DOI: 10.1126/Science.1147699  0.279
1999 Collins FS. The Human Genome Project and the future of medicine Annals of the New York Academy of Sciences. 882: 42-55. PMID 10415885 DOI: 10.1111/J.1749-6632.1999.Tb08532.X  0.278
1995 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 Research. 5: 312-7. PMID 8593617 DOI: 10.1101/Gr.5.3.312  0.278
2007 Collins FS, Manolio TA. Merging and emerging cohorts: necessary but not sufficient. Nature. 445: 259. PMID 17230172 DOI: 10.1038/445259A  0.277
2012 Stancáková A, Civelek M, Saleem NK, Soininen P, Kangas AJ, Cederberg H, Paananen J, Pihlajamäki J, Bonnycastle LL, Morken MA, Boehnke M, Pajukanta P, Lusis AJ, Collins FS, Kuusisto J, et al. Hyperglycemia and a common variant of GCKR are associated with the levels of eight amino acids in 9,369 Finnish men. Diabetes. 61: 1895-902. PMID 22553379 DOI: 10.2337/Db11-1378  0.277
2007 Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, ... ... Collins FS, et al. Replicating genotype-phenotype associations. Nature. 447: 655-60. PMID 17554299 DOI: 10.1038/447655A  0.277
1995 Hajra A, Liu PP, Wang Q, Kelley CA, Stacy T, Adelstein RS, Speck NA, Collins FS. The leukemic core binding factor β-smooth muscle myosin heavy chain (CBFβ-SMMHC) chimeric protein requires both CBFβ and myosin heavy chain domains for transformation of NIH 3T3 cells Proceedings of the National Academy of Sciences of the United States of America. 92: 1926-1930. PMID 7892201 DOI: 10.1073/Pnas.92.6.1926  0.276
1996 Barlow C, Hirotsune S, Paylor R, Liyanage M, Eckhaus M, Collins F, Shiloh Y, Crawley JN, Ried T, Tagle D, Wynshaw-Boris A. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell. 86: 159-71. PMID 8689683 DOI: 10.1016/S0092-8674(00)80086-0  0.275
2003 Insel TR, Collins FS. Psychiatry in the genomics era. The American Journal of Psychiatry. 160: 616-20. PMID 12668345 DOI: 10.1176/Appi.Ajp.160.4.616  0.275
1994 Gutmann DH, Cole JL, Collins FS. Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation. Journal of Neuroscience Research. 37: 398-405. PMID 8176761 DOI: 10.1002/Jnr.490370312  0.275
1996 Ghosh S, Collins FS. The geneticist's approach to complex disease Annual Review of Medicine. 47: 333-353. PMID 8712786 DOI: 10.1146/Annurev.Med.47.1.333  0.275
2019 Wolinetz CD, Collins FS. NIH supports call for moratorium on clinical uses of germline gene editing. Nature. 567: 175. PMID 30867615 DOI: 10.1038/D41586-019-00814-6  0.274
2017 Varshney A, Scott LJ, Welch RP, Erdos MR, Chines PS, Narisu N, Albanus RD, Orchard P, Wolford BN, Kursawe R, Vadlamudi S, Cannon ME, Didion JP, Hensley J, Kirilusha A, ... ... Collins FS, et al. Genetic regulatory signatures underlying islet gene expression and type 2 diabetes. Proceedings of the National Academy of Sciences of the United States of America. PMID 28193859 DOI: 10.1073/Pnas.1621192114  0.274
1994 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. Human Genetics. 93: 81-3. PMID 7903661 DOI: 10.1007/Bf00218920  0.274
2017 Latva-Rasku A, Honka MJ, Stančáková A, Koistinen HA, Kuusisto J, Guan L, Manning AK, Stringham H, Gloyn AL, Lindgren CM, Collins FS, Mohlke KL, Scott LJ, Karjalainen T, et al. A Partial Loss-of-Function Variant in AKT2 is Associated with Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin Sensitive Tissues: a Genotype-Based Callback Positron Emission Tomography Study. Diabetes. PMID 29141982 DOI: 10.2337/Db17-1142  0.274
2008 Hudson KL, Holohan MK, Collins FS. Keeping pace with the times - The genetic information nondiscrimination act of 2008 New England Journal of Medicine. 358: 2661-2663. PMID 18565857 DOI: 10.1056/Nejmp0803964  0.274
2012 Manolio TA, Weis BK, Cowie CC, Hoover RN, Hudson K, Kramer BS, Berg C, Collins R, Ewart W, Gaziano JM, Hirschfeld S, Marcus PM, Masys D, McCarty CA, McLaughlin J, ... ... Collins FS, et al. New models for large prospective studies: is there a better way? American Journal of Epidemiology. 175: 859-66. PMID 22411865 DOI: 10.1093/Aje/Kwr453  0.273
2013 Yaghootkar H, Lamina C, Scott RA, Dastani Z, Hivert MF, Warren LL, Stancáková A, Buxbaum SG, Lyytikäinen LP, Henneman P, Wu Y, Cheung CY, Pankow JS, Jackson AU, Gustafsson S, ... ... Collins FS, et al. Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes. Diabetes. 62: 3589-98. PMID 23835345 DOI: 10.2337/Db13-0128  0.273
2002 Patenaude AF, Guttmacher AE, Collins FS. Genetic testing and psychology: New roles, new responsibilities American Psychologist. 57: 271-282. PMID 11975377 DOI: 10.1037/0003-066X.57.4.271  0.273
2016 Collins FS. Seeking a Cure for One of the Rarest Diseases: Progeria. Circulation. 134: 126-9. PMID 27400897 DOI: 10.1161/Circulationaha.116.022965  0.272
1994 Liu P, Seidel N, Bodine D, Speck N, Tarlé S, Collins FS. Acute myeloid leukemia with Inv (16) produces a chimeric transcription factor with a myosin heavy chain tail. Cold Spring Harbor Symposia On Quantitative Biology. 59: 547-53. PMID 7587111 DOI: 10.1101/Sqb.1994.059.01.061  0.272
2009 Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, Najjar SS, Zhao JH, Heath SC, Eyheramendy S, Papadakis K, Voight BF, Scott LJ, Zhang F, Farrall M, ... ... Collins FS, et al. Genome-wide association study identifies eight loci associated with blood pressure. Nature Genetics. 41: 666-76. PMID 19430483 DOI: 10.1038/Ng.361  0.272
2001 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 J. The peroxisome proliferator-activated receptor-gamma2 Pro12A1a variant: association with type 2 diabetes and trait differences. Diabetes. 50: 886-90. PMID 11289057 DOI: 10.2337/Diabetes.50.4.886  0.272
2011 Kelada SN, Wilson MS, Tavarez U, Kubalanza K, Borate B, Whitehead GS, Maruoka S, Roy MG, Olive M, Carpenter DE, Brass DM, Wynn TA, Cook DN, Evans CM, Schwartz DA, ... Collins FS, et al. Strain-dependent genomic factors affect allergen-induced airway hyperresponsiveness in mice. American Journal of Respiratory Cell and Molecular Biology. 45: 817-24. PMID 21378263 DOI: 10.1165/Rcmb.2010-0315Oc  0.272
1996 Jordan E, Collins FS. A march of genetic maps Nature. 380: 111-112. PMID 8600381 DOI: 10.1038/380111A0  0.271
1993 Gutmann DH, Tennekoon GI, Cole JL, Collins FS, Rutkowski JL. Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation. Journal of Neuroscience Research. 36: 216-23. PMID 7505343 DOI: 10.1002/Jnr.490360212  0.271
2007 Manolio TA, Collins FS. Genes, environment, health, and disease: facing up to complexity. Human Heredity. 63: 63-6. PMID 17283435 DOI: 10.1159/000099178  0.271
2009 Guttmacher AE, Nabel EG, Collins FS. Why data-sharing policies matter Proceedings of the National Academy of Sciences of the United States of America. 106: 16894. PMID 19805161 DOI: 10.1073/Pnas.0910378106  0.27
1991 Gutmann DH, Wood DL, Collins FS. Identification of the neurofibromatosis type 1 gene product Proceedings of the National Academy of Sciences of the United States of America. 88: 9658-9662. PMID 1946382 DOI: 10.1073/Pnas.88.21.9658  0.27
2019 Sun L, Chiang JY, Choi JY, Xiong ZM, Mao X, Collins FS, Hodes RJ, Cao K. Transient induction of telomerase expression mediates senescence and reduces tumorigenesis in primary fibroblasts. Proceedings of the National Academy of Sciences of the United States of America. PMID 31481614 DOI: 10.1073/Pnas.1907199116  0.269
1998 Hacia JG, Edgemon K, Sun B, Stern D, Fodor SP, Collins FS. Two color hybridization analysis using high density oligonucleotide arrays and energy transfer dyes. Nucleic Acids Research. 26: 3865-6. PMID 9685507 DOI: 10.1093/Nar/26.16.3865  0.269
2019 Flannick J, Mercader JM, Fuchsberger C, Udler MS, Mahajan A, Wessel J, Teslovich TM, Caulkins L, Koesterer R, Barajas-Olmos F, Blackwell TW, Boerwinkle E, Brody JA, Centeno-Cruz F, Chen L, ... ... Collins FS, et al. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature. PMID 31118516 DOI: 10.1038/s41586-019-1231-2  0.269
1992 Tagle DA, Collins FS. An optimized Alu-PCR primer pair for human-specific amplification of YACS and somatic cell hybrids Human Molecular Genetics. 1: 121-122. PMID 1301148 DOI: 10.1093/Hmg/1.2.121  0.268
2003 Collins FS. Genome research: The next generation Cold Spring Harbor Symposia On Quantitative Biology. 68: 49-54. PMID 15338602 DOI: 10.1101/Sqb.2003.68.49  0.268
2017 Bar DZ, Atkatsh K, Tavarez U, Erdos MR, Gruenbaum Y, Collins FS. Biotinylation by antibody recognition-a method for proximity labeling. Nature Methods. PMID 29256494 DOI: 10.1038/Nmeth.4533  0.268
2017 Stančáková A, Kuulasmaa T, Kuusisto J, Mohlke KL, Collins FS, Boehnke M, Laakso M. Genetic risk scores in the prediction of plasma glucose, impaired insulin secretion, insulin resistance and incident type 2 diabetes in the METSIM study. Diabetologia. PMID 28573393 DOI: 10.1007/S00125-017-4313-4  0.267
2010 Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, ... ... Collins FS, et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nature Genetics. 42: 142-8. PMID 20081857 DOI: 10.1038/Ng.521  0.267
2011 Stančáková A, Paananen J, Soininen P, Kangas AJ, Bonnycastle LL, Morken MA, Collins FS, Jackson AU, Boehnke ML, Kuusisto J, Ala-Korpela M, Laakso M. Effects of 34 risk loci for type 2 diabetes or hyperglycemia on lipoprotein subclasses and their composition in 6,580 nondiabetic Finnish men. Diabetes. 60: 1608-16. PMID 21421807 DOI: 10.2337/Db10-1655  0.267
2001 Heppner C, Bilimoria KY, Agarwal SK, Kester M, Whitty LJ, Guru SC, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL. The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation. Oncogene. 20: 4917-25. PMID 11526476 DOI: 10.1038/Sj.Onc.1204529  0.267
1995 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 percent in Ashkenazi Jewish individuals Nature Genetics. 11: 198-200. PMID 7550349 DOI: 10.1038/Ng1095-198  0.266
2003 Patenaude AF, Guttmacher AE, Collins FS. Psychologists' Contributions to the Genetic Revolution American Psychologist. 58: 319-320. PMID 12866400 DOI: 10.1037/0003-066X.58.4.319B  0.266
2010 Collins F. Has the revolution arrived Nature. 464: 674-675. PMID 20360716 DOI: 10.1038/464674A  0.266
2004 Austin CP, Brady LS, Insel TR, Collins FS. NIH Molecular Libraries Initiative. Science (New York, N.Y.). 306: 1138-9. PMID 15542455 DOI: 10.1126/Science.1105511  0.266
2003 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. Proceedings of the National Academy of Sciences of the United States of America. 100: 10770-5. PMID 12960363 DOI: 10.1073/Pnas.1834524100  0.266
1999 Kim YS, Burns AL, Goldsmith PK, Heppner C, Park SY, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. Stable overexpression of MEN1 suppresses tumorigenicity of RAS. Oncogene. 18: 5936-42. PMID 10557080 DOI: 10.1038/Sj.Onc.1203005  0.266
2015 Green ED, Watson JD, Collins FS. Human Genome Project: Twenty-five years of big biology. Nature. 526: 29-31. PMID 26432225 DOI: 10.1038/526029A  0.266
2011 Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, Pihur V, Vollenweider P, O'Reilly PF, Amin N, ... ... Collins FS, et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 478: 103-9. PMID 21909115 DOI: 10.1038/Nature10405  0.265
1993 Strong TV, Tagle DA, Valdes JM, Elmer LW, 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. Nature Genetics. 5: 259-65. PMID 8275091 DOI: 10.1038/Ng1193-259  0.265
2018 Evangelou E, Warren HR, Mosen-Ansorena D, Mifsud B, Pazoki R, Gao H, Ntritsos G, Dimou N, Cabrera CP, Karaman I, Ng FL, Evangelou M, Witkowska K, Tzanis E, Hellwege JN, ... ... Collins F, et al. Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Nature Genetics. PMID 30429575 DOI: 10.1038/S41588-018-0297-3  0.265
2013 McCord RP, Nazario-Toole A, Zhang H, Chines PS, Zhan Y, Erdos MR, Collins FS, Dekker J, Cao K. Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome. Genome Research. 23: 260-9. PMID 23152449 DOI: 10.1101/Gr.138032.112  0.265
2008 Feero WG, Guttmacher AE, Collins FS. The genome gets personal - Almost Jama - Journal of the American Medical Association. 299: 1351-1352. PMID 18349096 DOI: 10.1001/Jama.299.11.1351  0.264
2018 DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS. Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts. Proceedings of the National Academy of Sciences of the United States of America. PMID 29581305 DOI: 10.1073/Pnas.1802811115  0.264
2003 Olopade OI, Fackenthal JD, Dunston G, Tainsky MA, Collins F, Whitfield-Broome C. Breast cancer genetics in African Americans. Cancer. 97: 236-45. PMID 12491487 DOI: 10.1002/Cncr.11019  0.263
2008 Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith ACM, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, ... ... Collins FS, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome New England Journal of Medicine. 358: 592-604. PMID 18256394 DOI: 10.1056/Nejmoa0706898  0.262
1991 Gumucio DL, Rood KL, Blanchard-McQuate KL, Gray TA, Saulino A, Collins FS. Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters. Blood. 78: 1853-63. PMID 1912570 DOI: 10.1182/Blood.V78.7.1853.Bloodjournal7871853  0.262
1991 Gibson AL, Wagner LM, Collins FS, Oxender DL. A bacterial system for investigating transport effects of cystic fibrosis--associated mutations. Science (New York, N.Y.). 254: 109-11. PMID 1718037 DOI: 10.1126/Science.1718037  0.262
2003 Collins FS, Morgan M, Patrinos A. The Human Genome Project: Lessons from large-scale biology Science. 300: 286-290. PMID 12690187 DOI: 10.1126/Science.1084564  0.262
2006 Shumaker DK, Dechat T, Kohlmaier A, Adam SA, Bozovsky MR, Erdos MR, Eriksson M, Goldman AE, Khuon S, Collins FS, Jenuwein T, Goldman RD. Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. Proceedings of the National Academy of Sciences of the United States of America. 103: 8703-8. PMID 16738054 DOI: 10.1073/Pnas.0602569103  0.262
1995 Hajra A, Liu PP, Speck NA, Collins FS. Overexpression of core-binding factor α (CBFα) reverses cellular transformation by the CBFβ-smooth muscle myosin heavy chain chimeric oncoprotein Molecular and Cellular Biology. 15: 4980-4989. PMID 7651416 DOI: 10.1128/Mcb.15.9.4980  0.262
2013 Parker SC, Stitzel ML, Taylor DL, Orozco JM, Erdos MR, Akiyama JA, van Bueren KL, Chines PS, Narisu N, Black BL, Visel A, Pennacchio LA, Collins FS, et al. Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants. Proceedings of the National Academy of Sciences of the United States of America. 110: 17921-6. PMID 24127591 DOI: 10.1073/Pnas.1317023110  0.262
1998 Collins FS. Genetics: not just in there somewhere, but at the very center of medicine Genetics in Medicine. 1: 3-3. DOI: 10.1097/00125817-199811000-00003  0.261
1997 Rothenberg K, Fuller B, Rothstein M, Duster T, Kahn MJE, Cunningham R, Fine B, Hudson K, King MC, Murphy P, Swergold G, Collins F. Genetic information and the workplace: Legislative approaches and policy challenges Science. 275: 1755-1757. PMID 9122681 DOI: 10.1126/Science.275.5307.1755  0.261
1991 Wallace MR, Collins FS. Molecular genetics of von Recklinghausen neurofibromatosis Advances in Human Genetics. 20: 267-307. PMID 1801591 DOI: 10.1007/978-1-4684-5958-6_5  0.261
1999 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. Nucleic Acids Research. 27: 4034-9. PMID 10497268 DOI: 10.1093/Nar/27.20.4034  0.261
2009 Goode EL, Szabo C, Prokunina-Olsson L, Vierkant RA, Fredericksen ZS, Collins FS, White KL, Schmidt M, Fridley BL, Couch FJ. No association between a candidate TCF7L2 variant and risk of breast or ovarian cancer. Bmc Cancer. 9: 312. PMID 19732438 DOI: 10.1186/1471-2407-9-312  0.26
2004 Collins F, Tabak L. A Call for Increased Education in Genetics for Dental Health Professionals Journal of Dental Education. 68: 807-808. DOI: 10.1002/J.0022-0337.2004.68.8.Tb03827.X  0.259
1992 Drumm ML, Wilkinson DJ, Smit LS, Worrell RT, Strong TV, Frizzell RA, Dawson DC, Collins FS. Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes. Science (New York, N.Y.). 254: 1797-9. PMID 1722350 DOI: 10.1126/Science.1722350  0.257
1994 Strong TV, Boehm K, Collins FS. Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization Journal of Clinical Investigation. 93: 347-354. PMID 7506713 DOI: 10.1172/Jci116966  0.257
1996 Bryan SS, Mitchell AL, Collins F, Miao W, Marshall M, Jove R. N-terminal sequences contained in the Src homology 2 and 3 domains of p120 GTPase-activating protein are required for full catalytic activity toward Ras Journal of Biological Chemistry. 271: 5195-5199. PMID 8617802 DOI: 10.1074/Jbc.271.9.5195  0.257
2010 Ingelsson E, Langenberg C, Hivert MF, Prokopenko I, Lyssenko V, Dupuis J, Mägi R, Sharp S, Jackson AU, Assimes TL, Shrader P, Knowles JW, Zethelius B, Abbasi FA, Bergman RN, ... ... Collins FS, et al. Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes. 59: 1266-75. PMID 20185807 DOI: 10.2337/Db09-1568  0.257
1999 Fuller B, Kahn MJE, Barr PA, Biesecker L, Crowley E, Garber J, Mansoura MK, Murphy P, Murray J, Phillips J, Rothenberg KH, Rothstein M, Stopfer J, Swergold G, Weber B, ... Collins F, et al. Privacy in genetics research. Science. 285: 1359-1361. PMID 10490410 DOI: 10.1126/Science.285.5432.1359  0.256
1991 Goldberg NS, Collins FS. The Hunt for the Neurofibromatosis Gene Archives of Dermatology. 127: 1705-1707. PMID 1952978 DOI: 10.1001/archderm.1991.01680100105014  0.256
2022 Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, ... ... Collins FS, et al. A saturated map of common genetic variants associated with human height. Nature. PMID 36224396 DOI: 10.1038/s41586-022-05275-y  0.255
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