Lopez, Alexander

De novo mutations in histone-modifying genes in congenital heart disease

Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature

Congenital heart defects researchGenomics and Rare Diseases

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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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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

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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

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An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

Cordell, H. J., Fryett, J. J., Ueno, K., Darlay, R., Aiba, Y., Hitomi, Y., Kawashima, M., Nishida, N., Khor, S.-S., Gervais, O., et al. (2021) · Journal of Hepatology

Liver Diseases and ImmunityGenetic Associations and Epidemiology

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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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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

Cited by 127

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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