Marchini, Jonathan

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

A Comparison of Phasing Algorithms for Trios and Unrelated Individuals

Marchini, J., Cutler, D., Patterson, N., Stephens, M., Eskin, E., Halperin, E., Lin, S., Qin, Z. S., Munro, H. M., Abecasis, G. R., et al. (2006) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 341

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

Cited by 276

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Mullins, N., Kang, J., Campos, A. I., Coleman, J. R. I., Edwards, A. C., Galfalvy, H., Levey, D. F., Lori, A., Shabalin, A., Starnawska, A., et al. (2022) · Biological Psychiatry

Suicide and Self-Harm StudiesGenetic Associations and Epidemiology

Cited by 238

Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns

Czamara, D., Eraslan, G., Page, C. M., Lahti, J., Lahti-Pulkkinen, M., Hämäläinen, E., Kajantie, E., Laivuori, H., Villa, P. M., Reynolds, R. M., et al. (2019) · Nature Communications

Epigenetics and DNA MethylationBirth, Development, and Health

Cited by 143

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

Cited by 127

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

Cited by 110

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

Increased Genetic Vulnerability to Smoking at CHRNA5 in Early-Onset Smokers

Hartz, S. M., Short, S. E., Saccone, N. L., Culverhouse, R., Chen, L., Schwantes-An, T.-H., Coon, H., Han, Y., Stephens, S. H., Sun, J., et al. (2012) · Archives of General Psychiatry

Smoking Behavior and CessationGenetic Associations and Epidemiology

Cited by 75