Tobias, Edward S.
NHS Greater Glasgow and Clyde
2 papers on CoChatORCID 0000-0003-2649-7695
Most cited papers
- Verified
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine
Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms
Cited by 804
- Verified
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature
Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders
Cited by 615
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