Ware, James S.

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

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

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

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 Human Phenotype Ontology in 2024: phenotypes around the world

Gargano, M. A., Matentzoglu, N., Coleman, B., Addo-Lartey, E. B., Anagnostopoulos, A. V., Anderton, J., Avillach, P., Bagley, A. M., Bakštein, E., Balhoff, J. P., et al. (2024) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 410

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies

Reichart, D., Lindberg, E. L., Maatz, H., Miranda, A. M. A., Viveiros, A., Shvetsov, N., Gärtner, A., Nadelmann, E. R., Lee, M., Kanemaru, K., et al. (2022) · Science

Cardiomyopathy and Myosin StudiesCardiac electrophysiology and arrhythmias

Cited by 240

Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy

Lota, A. S., Hazebroek, M. R., Theotokis, P., Wassall, R., Salmi, S., Halliday, B. P., Tayal, U., Verdonschot, J., Meena, D., Owen, R., et al. (2022) · Circulation

Viral Infections and Immunology ResearchCardiomyopathy and Myosin Studies

Cited by 184

Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants

Gasperetti, A., Muller, S. A., Peretto, G., Asatryan, B., Protonotarios, A., Laredo, M., Tarlet, P.-Y., Syrris, P., Carrick, R. T., Murray, B., et al. (2025) · Circulation

Viral Infections and Immunology ResearchCardiomyopathy and Myosin Studies

Cited by 36