Rioux, John D.

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

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

The International IBD Genetics Consortium (IIBDGC), Jostins, L., Ripke, S., Weersma, R. K., Duerr, R. H., McGovern, D. P., Hui, K. Y., Lee, J. C., Philip Schumm, L., Sharma, Y., et al. (2012) · Nature

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 4,722

Genetic studies of body mass index yield new insights for obesity biology

Study, T. L. C., Locke, A. E., The ADIPOGen Consortium, The AGEN-BMI Working Group, The CARDIOGRAMplusC4D Consortium, The CKDGen Consortium, The, G. L. G. C., The, I. C. B. P., The MAGIC Investigators, The MuTHER Consortium, et al. (2015) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 4,534

A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene

Duerr, R. H., Taylor, K. D., Brant, S. R., Rioux, J. D., Silverberg, M. S., Daly, M. J., Steinhart, A. H., Abraham, C., Regueiro, M., Griffiths, A., et al. (2006) · Science

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 3,039

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

the NIDDK IBD Genetics Consortium, Barrett, J. C., the Belgian-French IBD Consortium, the Wellcome Trust Case Control Consortium, Hansoul, S., Nicolae, D. L., Cho, J. H., Duerr, R. H., Rioux, J. D., Brant, S. R., et al. (2008) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 2,593

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

Franke, A., McGovern, D. P. B., Barrett, J. C., Wang, K., Radford-Smith, G. L., Ahmad, T., Lees, C. W., Balschun, T., Lee, J., Roberts, R., et al. (2010) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 2,520

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Lango Allen, H., Estrada, K., Lettre, G., Berndt, S. I., Weedon, M. N., Rivadeneira, F., Willer, C. J., Jackson, A. U., Vedantam, S., Raychaudhuri, S., et al. (2010) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 1,945

Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis

Rioux, J. D., Xavier, R. J., Taylor, K. D., Silverberg, M. S., Goyette, P., Huett, A., Green, T., Kuballa, P., Barmada, M. M., Datta, L. W., et al. (2007) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 1,769

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

High-resolution haplotype structure in the human genome

Daly, M. J., Rioux, J. D., Schaffner, S. F., Hudson, T. J., & Lander, E. S. (2001) · Nature Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 1,717

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

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

National Institute of Diabetes and Digestive Kidney Diseases Inflammatory Bowel Disease Genetics Consortium (NIDDK IBDGC), Rivas, M. A., United Kingdom Inflammatory Bowel Disease Genetics Consortium, International Inflammatory Bowel Disease Genetics Consortium, Beaudoin, M., Gardet, A., Stevens, C., Sharma, Y., Zhang, C. K., Boucher, G., et al. (2011) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 771

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC

de Bakker, P. I. W., McVean, G., Sabeti, P. C., Miretti, M. M., Green, T., Marchini, J., Ke, X., Monsuur, A. J., Whittaker, P., Delgado, M., et al. (2006) · Nature Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 766

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

McCarroll, S. A., Huett, A., Kuballa, P., Chilewski, S. D., Landry, A., Goyette, P., Zody, M. C., Hall, J. L., Brant, S. R., Cho, J. H., et al. (2008) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 655

Fine-mapping inflammatory bowel disease loci to single-variant resolution

International Inflammatory Bowel Disease Genetics Consortium, Huang, H., Fang, M., Jostins, L., Umićević Mirkov, M., Boucher, G., Anderson, C. A., Andersen, V., Cleynen, I., Cortes, A., et al. (2017) · Nature

Genetic Associations and EpidemiologyInflammatory Bowel Disease

Cited by 611

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

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

The UK-PSCSC Consortium, Liu, J. Z., The International IBD Genetics Consortium, The International PSC Study Group, Hov, J. R., Folseraas, T., Ellinghaus, E., Rushbrook, S. M., Doncheva, N. T., Andreassen, O. A., et al. (2013) · Nature Genetics

Liver Diseases and ImmunityGenetic Associations and Epidemiology

Cited by 391

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease

Hui, K. Y., Fernandez-Hernandez, H., Hu, J., Schaffner, A., Pankratz, N., Hsu, N.-Y., Chuang, L.-S., Carmi, S., Villaverde, N., Li, X., et al. (2018) · Science Translational Medicine

Parkinson's Disease Mechanisms and TreatmentsInflammatory Bowel Disease

Cited by 384

Autoimmune diseases: insights from genome-wide association studies

Lettre, G., & Rioux, J. D. (2008) · Human Molecular Genetics

Genetic Associations and EpidemiologyMultiple Sclerosis Research Studies

Cited by 317

Regulation of myeloid cell phagocytosis by LRRK2 via WAVE2 complex stabilization is altered in Parkinson’s disease

Kim, K. S., Marcogliese, P. C., Yang, J., Callaghan, S. M., Resende, V., Abdel-Messih, E., Marras, C., Visanji, N. P., Huang, J., Schlossmacher, M. G., et al. (2018) · Proceedings of the National Academy of Sciences

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 111

Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci

The International Multiple Sclerosis Genetics Consortium (IMSGC), McCauley, J. L., Zuvich, R. L., Beecham, A. H., De Jager, P. L., Konidari, I., Whitehead, P. L., Aubin, C., Ban, M., Pobywajlo, S., et al. (2010) · Human Molecular Genetics

Multiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Cited by 106

Lrrk2 alleles modulate inflammation during microbial infection of mice in a sex-dependent manner

Shutinoski, B., Hakimi, M., Harmsen, I. E., Lunn, M., Rocha, J., Lengacher, N., Zhou, Y. Y., Khan, J., Nguyen, A., Hake-Volling, Q., et al. (2019) · Science Translational Medicine

Immune Response and InflammationParkinson's Disease Mechanisms and Treatments

Cited by 96

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Rivas, M. A., Avila, B. E., Koskela, J., Huang, H., Stevens, C., Pirinen, M., Haritunians, T., Neale, B. M., Kurki, M., Ganna, A., et al. (2018) · PLoS Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 87

Innate Control of Tissue-Reparative Human Regulatory T Cells

Lam, A. J., MacDonald, K. N., Pesenacker, A. M., Juvet, S. C., Morishita, K. A., Bressler, B., iGenoMed Consortium, Pan, J. G., Sidhu, S. S., Rioux, J. D., et al. (2019) · The Journal of Immunology

IL-33, ST2, and ILC PathwaysT-cell and B-cell Immunology

Cited by 47