The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Open accessAbstract
The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that are thought to underlie, or are closely associated with human inherited disease. At the time of writing (June 2020), the database contains in excess of 289,000 different gene lesions identified in over 11,100 genes manually curated from 72,987 articles published in over 3100 peer-reviewed journals. There are primarily two main groups of users who utilise HGMD on a regular basis; research scientists and clinical diagnosticians. This review aims to highlight how to make the most out of HGMD data in each setting.
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A global reference for human genetic variation
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Self-citationA method and server for predicting damaging missense mutations.
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Analysis of protein-coding genetic variation in 60,706 humans
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Self-citationCADD: predicting the deleteriousness of variants throughout the human genome
Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J., & Kircher, M. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1016 · Cited by 3,534
The contribution of de novo coding mutations to autism spectrum disorder
Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature · doi:10.1038/nature13908 · Cited by 2,585
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.09.008 · Cited by 445
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Cited by
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Pejaver, V., Urresti, J., Lugo-Martinez, J., Pagel, K. A., Lin, G. N., Nam, H.-J., Mort, M., Cooper, D. N., Sebat, J., Iakoucheva, L. M., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19669-x · Cited by 923
Self-citationNucleotide Transformer: building and evaluating robust foundation models for human genomics
Dalla-Torre, H., Gonzalez, L., Mendoza-Revilla, J., Lopez Carranza, N., Grzywaczewski, A. H., Oteri, F., Dallago, C., Trop, E., de Almeida, B. P., Sirelkhatim, H., et al. (2025) · Nature Methods · doi:10.1038/s41592-024-02523-z · Cited by 772
The landscape of tolerated genetic variation in humans and primates
(2023) · doi:10.1126/science.abn8197 · Cited by 182
Physiological roles of mammalian transmembrane adenylyl cyclase isoforms
Ostrom, K. F., LaVigne, J. E., Brust, T. F., Seifert, R., Dessauer, C. W., Watts, V. J., & Ostrom, R. S. (2022) · Physiological Reviews · doi:10.1152/physrev.00013.2021 · Cited by 131
The molecular structure of IFT-A and IFT-B in anterograde intraflagellar transport trains
Lacey, S. E., Foster, H. E., & Pigino, G. (2023) · Nature Structural & Molecular Biology · doi:10.1038/s41594-022-00905-5 · Cited by 119
Metadata
- Authors
- Stenson, P. D., Mort, M., Ball, E. V., Chapman, M., Evans, K., Azevedo, L., Hayden, M., Heywood, S., Millar, D. S., Phillips, A. D., & Cooper, D. N.
- Venue
- Human Genetics
- Published
- 2020-06-28
- Volume
- 139
- Issue
- 10
- Pages
- 1197-1207
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W3037601773
- Cited by
- 789
- References
- 11
- FWCI
- 44.74
- Type
- journal article
- Language
- en
- Open access
- hybrid
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