MacArthur, Daniel G.

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,587

The GTEx Consortium atlas of genetic regulatory effects across human tissues

The GTEx Consortium, Aguet, F., Anand, S., Ardlie, K. G., Gabriel, S., Getz, G. A., Graubert, A., Hadley, K., Handsaker, R. E., Huang, K. H., et al. (2020) · Science

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 5,547

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 5,062

Origins and functional impact of copy number variation in the human genome

The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,970

Transcriptome and genome sequencing uncovers functional variation in humans

The Geuvadis Consortium, Lappalainen, T., Sammeth, M., Friedländer, M. R., ‘t Hoen, P. A. C., Monlong, J., Rivas, M. A., Gonzàlez-Porta, M., Kurbatova, N., Griebel, T., et al. (2013) · Nature

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 1,888

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

Cited by 1,727

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. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,662

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,272

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,224

High-throughput discovery of novel developmental phenotypes

The International Mouse Phenotyping Consortium, Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., et al. (2016) · Nature

Genomics and Rare DiseasesZebrafish Biomedical Research Applications

Cited by 1,196

Landscape of X chromosome inactivation across human tissues

GTEx Consortium, Tukiainen, T., Villani, A.-C., Yen, A., Rivas, M. A., Marshall, J. L., Satija, R., Aguirre, M., Gauthier, L., Fleharty, M., et al. (2017) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGenomics and Chromatin Dynamics

Cited by 1,138

The UK10K project identifies rare variants in health and disease

The UK10K Consortium, Writing group, Walter, K., Min, J. L., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, J. R. B., Xu, C., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 1,040

A framework for the interpretation of de novo mutation in human disease

Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics

Genomics and Rare DiseasesAutism Spectrum Disorder Research

Cited by 979

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O’Grady, G. L., et al. (2017) · Science Translational Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 831

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

Cited by 697

Determinants of telomere length across human tissues

Demanelis, K., Jasmine, F., Chen, L. S., Chernoff, M., Tong, L., Delgado, D., Zhang, C., Shinkle, J., Sabarinathan, M., Lin, H., et al. (2020) · Science

Telomeres, Telomerase, and SenescenceGenetics, Aging, and Longevity in Model Organisms

Cited by 515

Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.

White, J. K., Gerdin, A.-K., Karp, N. A., Ryder, E., Buljan, M., Bussell, J. N., Salisbury, J., Clare, S., Ingham, N. J., Podrini, C., et al. (2013) · Cell

Genomics and Rare DiseasesAnimal Genetics and Reproduction

Cited by 509

A Quantitative Proteome Map of the Human Body

Jiang, L., Wang, M., Lin, S., Jian, R., Li, X., Chan, J., Dong, G., Fang, H., Robinson, A. E., Aguet, F., et al. (2020) · Cell

Advanced Proteomics Techniques and ApplicationsBioinformatics and Genomic Networks

Cited by 458

Quantifying prion disease penetrance using large population control cohorts

Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Tung, J. Y., Yu, L. P. C., Gambetti, P., et al. (2016) · Science Translational Medicine

Prion Diseases and Protein MisfoldingGenomics and Rare Diseases

Cited by 442

Using high-resolution variant frequencies to empower clinical genome interpretation

Whiffin, N., Minikel, E., Walsh, R., O’Donnell-Luria, A. H., Karczewski, K., Ing, A. Y., Barton, P. J. R., Funke, B., Cook, S. A., MacArthur, D., et al. (2017) · Genetics in Medicine

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 441

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity

Grimm, D. G., Azencott, C., Aicheler, F., Gieraths, U., MacArthur, D. G., Samocha, K. E., Cooper, D. N., Stenson, P. D., Daly, M. J., Smoller, J. W., et al. (2015) · Human Mutation

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 356

Regional missense constraint improves variant deleteriousness prediction

Samocha, K. E., Kosmicki, J. A., Karczewski, K. J., O’Donnell-Luria, A. H., Pierce-Hoffman, E., MacArthur, D. G., Neale, B. M., & Daly, M. J. (2017) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 351

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Kosmicki, J. A., Samocha, K. E., Howrigan, D. P., Sanders, S. J., Slowikowski, K., Lek, M., Karczewski, K. J., Cutler, D. J., Devlin, B., Roeder, K., et al. (2017) · Nature Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 340

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Saleheen, D., Natarajan, P., Armean, I. M., Zhao, W., Rasheed, A., Khetarpal, S. A., Won, H.-H., Karczewski, K. J., O’Donnell-Luria, A. H., Samocha, K. E., et al. (2017) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 340