Collins, Francis S.

Replicating genotype–phenotype associations

NCI-NHGRI Working Group on Replication in Association Studies, Chanock, S. J., Manolio, T., Boehnke, M., Boerwinkle, E., Hunter, D. J., Thomas, G., Hirschhorn, J. N., Abecasis, G., Altshuler, D., et al. (2007) · Nature

Genetic Associations and EpidemiologyMeta-analysis and systematic reviews

Cited by 1,352

The Human Genome Project: Lessons from Large-Scale Biology

Collins, F. S., Morgan, M., & Patrinos, A. (2003) · Science

Interdisciplinary Research and CollaborationResearch, Science, and Academia

Cited by 1,284

Policy: NIH plans to enhance reproducibility

Collins, F. S., & Tabak, L. A. (2014) · Nature

Academic Publishing and Open AccessAnimal testing and alternatives

Cited by 1,247

Genome-wide association study identifies eight loci associated with blood pressure

Wellcome Trust Case Control Consortium, Newton-Cheh, C., Johnson, T., Gateva, V., Tobin, M. D., Bochud, M., Coin, L., Najjar, S. S., Zhao, J. H., Heath, S. C., et al. (2009) · Nature Genetics

Genetic Associations and EpidemiologyBlood Pressure and Hypertension Studies

Cited by 1,215

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson–Gilford progeria syndrome

Goldman, R. D., Shumaker, D. K., Erdos, M. R., Eriksson, M., Goldman, A. E., Gordon, L. B., Gruenbaum, Y., Khuon, S., Mendez, M., Varga, R., et al. (2004) · Proceedings of the National Academy of Sciences

Nuclear Structure and FunctionSkin and Cellular Biology Research

Cited by 1,103

The genetic architecture of type 2 diabetes

Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,051

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Mahajan, A., Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, South Asian Type 2 Diabetes (SAT2D) Consortium, Mexican American Type 2 Diabetes (MAT2D) Consortium, Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) Consortium, Go, M. J., Zhang, W., Below, J. E., Gaulton, K. J., et al. (2014) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,034

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

MAGIC, Heid, I. M., Jackson, A. U., Randall, J. C., Winkler, T. W., Qi, L., Steinthorsdottir, V., Thorleifsson, G., Zillikens, M. C., Speliotes, E. K., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 931

A HapMap harvest of insights into the genetics of common disease

Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 889

Common variants associated with plasma triglycerides and risk for coronary artery disease

Do, R., Willer, C. J., Schmidt, E. M., Sengupta, S., Gao, C., Peloso, G. M., Gustafsson, S., Kanoni, S., Ganna, A., Chen, J., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 862

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins.

Ballester, R., Marchuk, D., Boguski, M., Saulino, A., Letcher, R., Wigler, M., & Collins, F. (1990) · Cell

Neurofibromatosis and Schwannoma CasesProtein Kinase Regulation and GTPase Signaling

Cited by 847

A saturated map of common genetic variants associated with human height

Yengo, L., Vedantam, S., Marouli, E., Sidorenko, J., Bartell, E., Sakaue, S., Graff, M., Eliasen, A. U., Jiang, Y., Raghavan, S., et al. (2022) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 825

Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging

Shumaker, D. K., Dechat, T., Kohlmaier, A., Adam, S. A., Bozovsky, M. R., Erdos, M. R., Eriksson, M., Goldman, A. E., Khuon, S., Collins, F. S., et al. (2006) · Proceedings of the National Academy of Sciences

Nuclear Structure and FunctionGenomics and Chromatin Dynamics

Cited by 791

Fusion Between Transcription Factor CBFβ/PEBP2β and a Myosin Heavy Chain in Acute Myeloid Leukemia

Liu, P., Tarlé, S. A., Hajra, A., Claxton, D. F., Marlton, P., Freedman, M., Siciliano, M. J., & Collins, F. S. (1993) · Science

Acute Myeloid Leukemia ResearchRetinoids in leukemia and cellular processes

Cited by 732

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

Mahajan, A., Spracklen, C. N., Zhang, W., Ng, M. C. Y., Petty, L. E., Kitajima, H., Yu, G. Z., Rüeger, S., Speidel, L., Kim, Y. J., et al. (2022) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 704

Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants

Parker, S. C. J., Stitzel, M. L., Taylor, D. L., Orozco, J. M., Erdos, M. R., Akiyama, J. A., van Bueren, K. L., Chines, P. S., Narisu, N., Program, N. C. S., et al. (2013) · Proceedings of the National Academy of Sciences

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 665

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Berndt, S. I., Gustafsson, S., Mägi, R., Ganna, A., Wheeler, E., Feitosa, M. F., Justice, A. E., Monda, K. L., Croteau-Chonka, D. C., Day, F. R., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 646

Transforming Environmental Health Protection

Collins, F. S., Gray, G. M., & Bucher, J. R. (2008) · Science

Animal testing and alternativesEnvironmental Toxicology and Ecotoxicology

Cited by 630

Rare and low-frequency coding variants alter human adult height

Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., et al. (2017) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 610

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

Suzuki, K., Hatzikotoulas, K., Southam, L., Taylor, H. J., Yin, X., Lorenz, K. M., Mandla, R., Huerta-Chagoya, A., Melloni, G. E. M., Kanoni, S., et al. (2024) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 606

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Zanoni, P., Khetarpal, S. A., Larach, D. B., Hancock-Cerutti, W. F., Millar, J. S., Cuchel, M., DerOhannessian, S., Kontush, A., Surendran, P., Saleheen, D., et al. (2016) · Science

Cholesterol and Lipid MetabolismLipoproteins and Cardiovascular Health

Cited by 545

The Family History — More Important Than Ever

Guttmacher, A. E., Collins, F. S., & Carmona, R. H. (2004) · New England Journal of Medicine

Electronic Health Records SystemsPatient-Provider Communication in Healthcare

Cited by 497

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

Mahajan, A., Wessel, J., Willems, S. M., Zhao, W., Robertson, N. R., Chu, A. Y., Gan, W., Kitajima, H., Taliun, D., Rayner, N. W., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 442

TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene, MEC1

Morrow, D. M., Tagle, D. A., Shiloh, Y., Collins, F. S., & Hieter, P. (1995) · Cell

DNA Repair MechanismsFungal and yeast genetics research

Cited by 370