Reid, Jeffrey G.

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Computationally efficient whole-genome regression for quantitative and binary traits

Mbatchou, J., Barnard, L., Backman, J., Marcketta, A., Kosmicki, J. A., Ziyatdinov, A., Benner, C., O’Dushlaine, C., Barber, M., Boutkov, B., et al. (2021) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., et al. (2014) · JAMA

Genomics and Rare DiseasesConnective tissue disorders research

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Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

Dewey, F. E., Gusarova, V., Dunbar, R. L., O’Dushlaine, C., Schurmann, C., Gottesman, O., McCarthy, S., Van Hout, C. V., Bruse, S., Dansky, H. M., et al. (2017) · New England Journal of Medicine

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

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A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

Abul-Husn, N. S., Cheng, X., Li, A. H., Xin, Y., Schurmann, C., Stevis, P., Liu, Y., Kozlitina, J., Stender, S., Wood, G. C., et al. (2018) · New England Journal of Medicine

Liver Disease Diagnosis and TreatmentGenetic Associations and Epidemiology

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Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine

Hereditary Neurological DisordersGenomics and Rare Diseases

Cited by 759

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis

Vujkovic, M., Keaton, J. M., Lynch, J. A., Miller, D. R., Zhou, J., Tcheandjieu, C., Huffman, J. E., Assimes, T. L., Lorenz, K., Zhu, X., et al. (2020) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 741

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Van Hout, C. V., Tachmazidou, I., Backman, J. D., Hoffman, J. D., Liu, D., Pandey, A. K., Gonzaga-Jauregui, C., Khalid, S., Ye, B., Banerjee, N., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

Dewey, F. E., Gusarova, V., O’Dushlaine, C., Gottesman, O., Trejos, J., Hunt, C., Van Hout, C. V., Habegger, L., Buckler, D., Lai, K.-M. V., et al. (2016) · New England Journal of Medicine

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

Cited by 497

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Abul-Husn, N. S., Manickam, K., Jones, L. K., Wright, E. A., Hartzel, D. N., Gonzaga-Jauregui, C., O’Dushlaine, C., Leader, J. B., Lester Kirchner, H., Lindbuchler, D. M., et al. (2016) · Science

Lipoproteins and Cardiovascular HealthGenomics and Rare Diseases

Cited by 425

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Szustakowski, J. D., Balasubramanian, S., Kvikstad, E., Khalid, S., Bronson, P. G., Sasson, A., Wong, E., Liu, D., Wade Davis, J., Haefliger, C., et al. (2021) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 401

Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects

Howe, L. J., Nivard, M. G., Morris, T. T., Hansen, A. F., Rasheed, H., Cho, Y., Chittoor, G., Ahlskog, R., Lind, P. A., Palviainen, T., et al. (2022) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 377

Common and rare variant associations with clonal haematopoiesis phenotypes

Kessler, M. D., Damask, A., O’Keeffe, S., Banerjee, N., Li, D., Watanabe, K., Marketta, A., Van Meter, M., Semrau, S., Horowitz, J., et al. (2022) · Nature

Acute Myeloid Leukemia ResearchGenetic Associations and Epidemiology

Cited by 313

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

Akbari, P., Gilani, A., Sosina, O., Kosmicki, J. A., Khrimian, L., Fang, Y.-Y., Persaud, T., Garcia, V., Sun, D., Li, A., et al. (2021) · Science

Genetic Associations and EpidemiologyRegulation of Appetite and Obesity

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Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Lim, E. T., Raychaudhuri, S., Sanders, S. J., Stevens, C., Sabo, A., MacArthur, D. G., Neale, B. M., Kirby, A., Ruderfer, D. M., Fromer, M., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes

Mansour Aly, D., Dwivedi, O. P., Prasad, R. B., Käräjämäki, A., Hjort, R., Thangam, M., Åkerlund, M., Mahajan, A., Udler, M. S., Florez, J. C., et al. (2021) · Nature Genetics

Genetic Associations and EpidemiologyDiabetes and associated disorders

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Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

Liu, L., Sabo, A., Neale, B. M., Nagaswamy, U., Stevens, C., Lim, E., Bodea, C. A., Muzny, D., Reid, J. G., Banks, E., et al. (2013) · PLoS Genetics

Autism Spectrum Disorder ResearchGenomics and Rare Diseases

Cited by 135

Germline Mutations in CIDEB and Protection against Liver Disease

Verweij, N., Haas, M. E., Nielsen, J. B., Sosina, O. A., Kim, M., Akbari, P., De, T., Hindy, G., Bovijn, J., Persaud, T., et al. (2022) · New England Journal of Medicine

Liver Disease Diagnosis and TreatmentGenetic 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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Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

Van Hout, C. V., Tachmazidou, I., Backman, J. D., Hoffman, J. X., Ye, B., Pandey, A. K., Gonzaga-Jauregui, C., Khalid, S., Liu, D., Banerjee, N., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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