Fu, Jack M.

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

A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,037

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

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

Zhao, X., Collins, R. L., Lee, W.-P., Weber, A. M., Jun, Y., Zhu, Q., Weisburd, B., Huang, Y., Audano, P. A., Wang, H., et al. (2021) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 132

The female protective effect against autism spectrum disorder

Wigdor, E. M., Weiner, D. J., Grove, J., Fu, J. M., Thompson, W. K., Carey, C. E., Baya, N., van der Merwe, C., Walters, R. K., Satterstrom, F. K., et al. (2021) · Cell Genomics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 124

The female protective effect against autism spectrum disorder

Wigdor, E. M., Weiner, D. J., Grove, J., Fu, J. M., Thompson, W. K., Carey, C. E., Baya, N., van der Merwe, C., Walters, R. K., Satterstrom, F. K., et al. (2022) · Cell Genomics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 124

The landscape of gene loss and missense variation across the mammalian tree informs on gene essentiality

Liao, C., Ye, R., Ivankovic, F., Fu, J. M., Walters, R., Lowther, C., Valkanas, E., Churchhouse, C., Samocha, K. E., Lindblad-Toh, K., et al. (2026) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 0