Hu, Fengyuan

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Wang, Q., Dhindsa, R. S., Carss, K., Harper, A. R., Nag, A., Tachmazidou, I., Vitsios, D., Deevi, S. V. V., Mackay, A., Muthas, D., et al. (2021) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 604

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Rare variant associations with plasma protein levels in the UK Biobank

Dhindsa, R. S., Burren, O. S., Sun, B. B., Prins, B. P., Matelska, D., Wheeler, E., Mitchell, J., Oerton, E., Hristova, V. A., Smith, K. R., et al. (2023) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 193

A minimal role for synonymous variation in human disease

Dhindsa, R. S., Wang, Q., Vitsios, D., Burren, O. S., Hu, F., DiCarlo, J. E., Kruglyak, L., MacArthur, D. G., Hurles, M. E., & Petrovski, S. (2022) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 38

Cancer-driving mutations are enriched in genic regions intolerant to germline variation

Vitsios, D., Dhindsa, R. S., Matelska, D., Mitchell, J., Zou, X., Armenia, J., Hu, F., Wang, Q., Sidders, B., Harper, A. R., et al. (2022) · Science Advances

Cancer Genomics and DiagnosticsGenomics and Rare Diseases

Cited by 14

A phenome-wide structural variant map from 467,152 UK Biobank genomes

Atanur, S. S., Hu, F., Lou, H., Li, X., Zou, X. Z., O’Dell, S., Deevi, S. V. V., Sawczuk, P., Megy, K., Fairhurst-Hunter, Z., et al. (2026) · Cell

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 0