Carss, Keren

The UK10K project identifies rare variants in health and disease

The UK10K Consortium, Writing group, Walter, K., Min, J. L., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, J. R. B., Xu, C., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 1,040

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

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Szustakowski, J. D., Balasubramanian, S., Kvikstad, E., Khalid, S., Bronson, P. G., Sasson, A., Wong, E., Liu, D., Wade Davis, J., Haefliger, C., et al. (2021) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 401

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

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

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

Vitamin A deficiency due to bi-allelic mutation of RBP4: There’s more to it than meets the eye

Khan, K. N., Carss, K., Raymond, F. L., Islam, F., NIHR BioResource-Rare Diseases Consortium, Moore, A. T., Michaelides, M., & Arno, G. (2017) · Ophthalmic Genetics

Retinal Development and DisordersRetinoids in leukemia and cellular processes

Cited by 26

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

Sanchis-Juan, A., Megy, K., Stephens, J., Armirola Ricaurte, C., Dewhurst, E., Low, K., French, C. E., Grozeva, D., Stirrups, K., Erwood, M., et al. (2023) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 24

Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank

Nag, A., Dhindsa, R. S., Middleton, L., Jiang, X., Vitsios, D., Wigmore, E., Allman, E. L., Reznichenko, A., Carss, K., Smith, K. R., et al. (2023) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 22

Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases

Mitchell, J., Camacho, N., Shea, P., Stopsack, K. H., Joseph, V., Burren, O. S., Dhindsa, R. S., Nag, A., Berchuck, J. E., O’Neill, A., et al. (2025) · Nature Communications

BRCA gene mutations in cancerProstate Cancer Treatment and Research

Cited by 19

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