Harper, Andrew R.

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

Resistance of Dynamin-related Protein 1 Oligomers to Disassembly Impairs Mitophagy, Resulting in Myocardial Inflammation and Heart Failure

Cahill, T. J., Leo, V., Kelly, M., Stockenhuber, A., Kennedy, N. W., Bao, L., Cereghetti, G., Harper, A. R., Czibik, G., Lao, C., et al. (2015) · Journal of Biological Chemistry

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 66

Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes

Nag, A., Dhindsa, R. S., Mitchell, J., Vasavda, C., Harper, A. R., Vitsios, D., Ahnmark, A., Bilican, B., Madeyski-Bengtson, K., Zarrouki, B., et al. (2022) · Science Advances

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 36

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

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

Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy, resulting in myocardial inflammation and heart failure

Cahill, T. J., Leo, V., Kelly, M., Stockenhuber, A., Kennedy, N. W., Bao, L., Cereghetti, G. M., Harper, A. R., Czibik, G., Liao, C., et al. (2016) · Journal of Biological Chemistry

Autophagy in Disease and TherapyMitochondrial Function and Pathology

Cited by 14