Gauthier, Laura D.

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

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

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

Landscape of X chromosome inactivation across human tissues

GTEx Consortium, Tukiainen, T., Villani, A.-C., Yen, A., Rivas, M. A., Marshall, J. L., Satija, R., Aguirre, M., Gauthier, L., Fleharty, M., et al. (2017) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGenomics and Chromatin Dynamics

Cited by 1,138

Genomic data in the all of us research program

The All of Us Research Program Genomics Investigators, Manuscript Writing Group, Bick, A. G., Metcalf, G. A., Mayo, K. R., Lichtenstein, L., Rura, S., Carroll, R. J., Musick, A., Linder, J. E., et al. (2024) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 829

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 640

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Karczewski, K. J., Solomonson, M., Chao, K. R., Goodrich, J. K., Tiao, G., Lu, W., Riley-Gillis, B. M., Tsai, E. A., Kim, H. I., Zheng, X., et al. (2022) · Cell Genomics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 284