Cho, Judy

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

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Finding the missing heritability of complex diseases

Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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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

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

Inflammatory bowel disease

Abraham, C., & Cho, J. H. (2009) · New England Journal of Medicine

Inflammatory Bowel DiseaseOcular Diseases and Behçet’s Syndrome

Cited by 2,712

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

Liu, J. Z., van Sommeren, S., Huang, H., Ng, S. C., Alberts, R., Takahashi, A., Ripke, S., Lee, J. C., Jostins, L., Shah, T., et al. (2015) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

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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

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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

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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

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Immunology of COVID-19: Current State of the Science

Vabret, N., Britton, G. J., Gruber, C., Hegde, S., Kim, J., Kuksin, M., Levantovsky, R., Malle, L., Moreira, A., Park, M. D., et al. (2020) · Immunity

SARS-CoV-2 and COVID-19 ResearchCOVID-19 Clinical Research Studies

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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

The genetics and immunopathogenesis of inflammatory bowel disease

Cho, J. H. (2008) · Nature Reviews Immunology

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 940

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 brief history of human disease genetics

Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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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

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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

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Pervasive Sharing of Genetic Effects in Autoimmune Disease

Cotsapas, C., Voight, B. F., Rossin, E., Lage, K., Neale, B. M., Wallace, C., Abecasis, G. R., Barrett, J. C., Behrens, T., Cho, J., et al. (2011) · PLoS Genetics

Genetic Associations and EpidemiologyMultiple Sclerosis Research Studies

Cited by 606

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

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Different tissue phagocytes sample apoptotic cells to direct distinct homeostasis programs

Cummings, R. J., Barbet, G., Bongers, G., Hartmann, B. M., Gettler, K., Muniz, L., Furtado, G. C., Cho, J., Lira, S. A., & Blander, J. M. (2016) · Nature

Phagocytosis and Immune RegulationImmune Response and Inflammation

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

Carmi, S., Hui, K. Y., Kochav, E., Liu, X., Xue, J., Grady, F., Guha, S., Upadhyay, K., Ben-Avraham, D., Mukherjee, S., et al. (2014) · Nature Communications

Forensic and Genetic ResearchGenetic Associations and Epidemiology

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Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease

Marigorta, U. M., Denson, L. A., Hyams, J. S., Mondal, K., Prince, J., Walters, T. D., Griffiths, A., Noe, J. D., Crandall, W. V., Rosh, J. R., et al. (2017) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

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A deep catalogue of protein-coding variation in 983,578 individuals

Sun, K. Y., Bai, X., Chen, S., Bao, S., Zhang, C., Kapoor, M., Backman, J., Joseph, T., Maxwell, E., Mitra, G., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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