England, Eleina M.
Broad Institute · Clalit Health Services
4 papers on CoChat
Most cited papers
- Verified
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. (2020) · Nature
Genomics and Rare DiseasesGenetic Associations and Epidemiology
Cited by 9,434
- Verified
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
- Verified
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
- Verified
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
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