MacArthur, Daniel G.

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

From patients to partners: participant-centric initiatives in biomedical research

Kaye, J., Curren, L., Anderson, N., Edwards, K., Fullerton, S. M., Kanellopoulou, N., Lund, D., MacArthur, D. G., Mascalzoni, D., Shepherd, J., et al. (2012) · Nature Reviews Genetics

Ethics in Clinical ResearchSocial Media in Health Education

Cited by 293

Health and population effects of rare gene knockouts in adult humans with related parents

Narasimhan, V. M., Hunt, K. A., Mason, D., Baker, C. L., Karczewski, K. J., Barnes, M. R., Barnett, A. H., Bates, C., Bellary, S., Bockett, N. A., et al. (2016) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 286

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Karczewski, K. J., Solomonson, M., Chao, K. R., Goodrich, J. K., Tiao, G., Lu, W., Riley-Gillis, B. M., Tsai, E. A., Kim, H. I., Zheng, X., et al. (2022) · Cell Genomics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 284

The Genetic Landscape of Diamond-Blackfan Anemia

Ulirsch, J. C., Verboon, J. M., Kazerounian, S., Guo, M. H., Yuan, D., Ludwig, L. S., Handsaker, R. E., Abdulhay, N. J., Fiorini, C., Genovese, G., et al. (2018) · The American Journal of Human Genetics

Blood disorders and treatmentsGenomics and Rare Diseases

Cited by 272

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

Cited by 266

The Genotype-Tissue Expression (GTEx) project

Lonsdale, J., Thomas, J., Salvatore, M., Phillips, R., Lo, E., Shad, S., Hasz, R., Walters, G., Garcia, F., Young, N., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 263

Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population

Estrada, K., Aukrust, I., Bjørkhaug, L., Burtt, N. P., Mercader, J. M., García-Ortiz, H., Huerta-Chagoya, A., Moreno-Macías, H., Walford, G., Flannick, J., et al. (2014) · JAMA

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 259

Quantitative analysis of population-scale family trees with millions of relatives

Kaplanis, J., Gordon, A., Shor, T., Weissbrod, O., Geiger, D., Wahl, M., Gershovits, M., Markus, B., Sheikh, M., Gymrek, M., et al. (2018) · Science

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 245

Genes and human elite athletic performance

MacArthur, D. G., & North, K. N. (2005) · Human Genetics

Genetics and Physical PerformanceGenetic Associations and Epidemiology

Cited by 229

Single-cell genomics meets human genetics

Cuomo, A. S. E., Nathan, A., Raychaudhuri, S., MacArthur, D. G., & Powell, J. E. (2023) · Nature Reviews Genetics

Single-cell and spatial transcriptomicsGenetic Associations and Epidemiology

Cited by 124

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Ganna, A., Satterstrom, F. K., Zekavat, S. M., Das, I., Kurki, M. I., Churchhouse, C., Alfoldi, J., Martin, A. R., Havulinna, A. S., Byrnes, A., et al. (2018) · The American Journal of Human Genetics

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

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

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Barbeira, A. N., Dickinson, S. P., Bonazzola, R., Zheng, J., Wheeler, H. E., Torres, J. M., Torstenson, E. S., Shah, K. P., Garcia, T., Edwards, T. L., et al. (2018) · Nature Communications

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 69

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Lim, E. T., Würtz, P., Havulinna, A. S., Palta, P., Tukiainen, T., Rehnström, K., Esko, T., Mägi, R., Inouye, M., Lappalainen, T., et al. (2014) · PLoS Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 49

Face up to false positives

MacArthur, D. (2012) · Nature

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 49

A minimal role for synonymous variation in human disease

Dhindsa, R. S., Wang, Q., Vitsios, D., Burren, O. S., Hu, F., DiCarlo, J. E., Kruglyak, L., MacArthur, D. G., Hurles, M. E., & Petrovski, S. (2022) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 38

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Muir, A. M., Gardner, J. F., van Jaarsveld, R. H., de Lange, I. M., van der Smagt, J. J., Wilson, G. N., Dubbs, H., Goldberg, E. M., Zitano, L., Bupp, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 35

Genetic variants shape single-cell chromatin accessibility and disease risk

Xue, A., Fan, J., Dong, O. A., Huang, H. L., Chen, L., Allen, P. C., Spenceley, E., Sagi-Zsigmond, E., Bowen, B., Henry, A., et al. (2026) · Nature

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 3