Francioli, Laurent C.

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

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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

Rare coding variants in ten genes confer substantial risk for schizophrenia

Singh, T., Poterba, T., Curtis, D., Akil, H., Al Eissa, M., Barchas, J. D., Bass, N., Bigdeli, T. B., Breen, G., Bromet, E. J., et al. (2022) · Nature

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 983

Deleterious Alleles in the Human Genome Are on Average Younger Than Neutral Alleles of the Same Frequency

Kiezun, A., Pulit, S. L., Francioli, L. C., van Dijk, F., Swertz, M., Boomsma, D. I., van Duijn, C. M., Slagboom, P. E., van Ommen, G. J. B., Wijmenga, C., et al. (2013) · PLoS Genetics

Evolution and Genetic DynamicsGenomics and Rare Diseases

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