Dupuis, Josée

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,434

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,498

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

DIAGRAM Consortium, Dupuis, J., GIANT Consortium, Global BPgen Consortium, Anders Hamsten on behalf of Procardis Consortium, the MAGIC investigators, Langenberg, C., Prokopenko, I., Saxena, R., Soranzo, N., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 2,166

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

the DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Morris, A. P., Voight, B. F., Teslovich, T. M., Ferreira, T., Segrè, A. V., Steinthorsdottir, V., Strawbridge, R. J., Khan, H., Grallert, H., et al. (2012) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,912

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

The MAGIC investigators, Voight, B. F., The GIANT Consortium, Scott, L. J., Steinthorsdottir, V., Morris, A. P., Dina, C., Welch, R. P., Zeggini, E., Huth, C., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,761

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Mahajan, A., Taliun, D., Thurner, M., Robertson, N. R., Torres, J. M., Rayner, N. W., Payne, A. J., Steinthorsdottir, V., Scott, R. A., Grarup, N., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,744

A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,727

Common variants at 30 loci contribute to polygenic dyslipidemia

Kathiresan, S., Willer, C. J., Peloso, G. M., Demissie, S., Musunuru, K., Schadt, E. E., Kaplan, L., Bennett, D., Li, Y., Tanaka, T., et al. (2009) · Nature Genetics

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 1,364

A Mutation in the LDL Receptor–Related Protein 5 Gene Results in the Autosomal Dominant High–Bone-Mass Trait

Little, R. D., Folz, C., Manning, S. P., Swain, P. M., Zhao, S.-C., Eustace, B., Lappe, M. M., Spitzer, L., Zweier, S., Braunschweiger, K., et al. (2002) · The American Journal of Human Genetics

Bone health and osteoporosis researchBone Metabolism and Diseases

Cited by 1,282

Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts

Vimaleswaran, K. S., Berry, D. J., Lu, C., Tikkanen, E., Pilz, S., Hiraki, L. T., Cooper, J. D., Dastani, Z., Li, R., Houston, D. K., et al. (2013) · PLoS Medicine

Vitamin D Research StudiesGenetic Associations and Epidemiology

Cited by 1,046

A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,037

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

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

ARUK Consortium, Sims, R., GERAD/PERADES, C., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., et al. (2017) · Nature Genetics

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 1,012

Genotype score in addition to common risk factors for prediction of type 2 diabetes

Meigs, J. B., Shrader, P., Sullivan, L. M., McAteer, J. B., Fox, C. S., Dupuis, J., Manning, A. K., Florez, J. C., Wilson, P. W. F., D'Agostino, R. B., et al. (2008) · New England Journal of Medicine

Genetic Associations and EpidemiologyNutrition, Genetics, and Disease

Cited by 759

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

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

Impact of common genetic determinants of hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis

Wheeler, E., Leong, A., Liu, C.-T., Hivert, M.-F., Strawbridge, R. J., Podmore, C., Li, M., Yao, J., Sim, X., Hong, J., et al. (2017) · PLOS Medicine

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 408

Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes

Strawbridge, R. J., Dupuis, J., Prokopenko, I., Barker, A., Ahlqvist, E., Rybin, D., Petrie, J. R., Travers, M. E., Bouatia-Naji, N., Dimas, A. S., et al. (2011) · Diabetes

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 356

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Platform, B. G., Flannick, J., DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, et al. (2019) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 304

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 248

Meta-Analysis Investigating Associations Between Healthy Diet and Fasting Glucose and Insulin Levels and Modification by Loci Associated With Glucose Homeostasis in Data From 15 Cohorts

Nettleton, J. A., Hivert, M.-F., Lemaitre, R. N., McKeown, N. M., Mozaffarian, D., Tanaka, T., Wojczynski, M. K., Hruby, A., Djoussé, L., Ngwa, J. S., et al. (2013) · American Journal of Epidemiology

Nutrition, Genetics, and DiseaseNutritional Studies and Diet

Cited by 89

The Association of Aging Biomarkers, Interstitial Lung Abnormalities, and Mortality

Sanders, J. L., Putman, R. K., Dupuis, J., Xu, H., Murabito, J. M., Araki, T., Nishino, M., Benjamin, E. J., Levy, D., Ramachandran, V. S., et al. (2021) · American Journal of Respiratory and Critical Care Medicine

Interstitial Lung Diseases and Idiopathic Pulmonary FibrosisGDF15 and Related Biomarkers

Cited by 84

Type 2 diabetes partitioned polygenic scores associate with disease outcomes in 454,193 individuals across 13 cohorts

DiCorpo, D., LeClair, J., Cole, J. B., Sarnowski, C., Ahmadizar, F., Bielak, L. F., Blokstra, A., Bottinger, E. P., Chaker, L., Chen, Y.-D. I., et al. (2022) · Diabetes Care

Genetic Associations and EpidemiologyDiabetes, Cardiovascular Risks, and Lipoproteins

Cited by 66

Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium

Merino, J., Dashti, H. S., Li, S. X., Sarnowski, C., Justice, A. E., Graff, M., Papoutsakis, C., Smith, C. E., Dedoussis, G. V., Lemaitre, R. N., et al. (2019) · Molecular Psychiatry

Genetic Associations and EpidemiologyNutrition, Genetics, and Disease

Cited by 66