Petrovski, Slavé

FinnGen provides genetic insights from a well-phenotyped isolated population

Kurki, M. I., Karjalainen, J., Palta, P., Sipilä, T. P., Kristiansson, K., Donner, K. M., Reeve, M. P., Laivuori, H., Aavikko, M., Kaunisto, M. A., et al. (2023) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 4,233

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,498

Plasma proteomic associations with genetics and health in the UK Biobank

Sun, B. B., Chiou, J., Traylor, M., Benner, C., Hsu, Y.-H., Richardson, T. G., Surendran, P., Mahajan, A., Robins, C., Vasquez-Grinnell, S. G., et al. (2023) · Nature

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 1,880

Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants

Sun, B. B., Chiou, J., Traylor, M., Benner, C., Hsu, Y.-H., Richardson, T. G., Surendran, P., Mahajan, A., Robins, C., Vasquez-Grinnell, S. G., et al. (2022) · Nature

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 1,833

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 966

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Petrovski, S., Wang, Q., Heinzen, E. L., Allen, A. S., & Goldstein, D. B. (2013) · PLoS Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 901

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

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

The International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications

Epilepsy research and treatmentGenetic Associations and Epidemiology

Cited by 482

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 439

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

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

Kar, S. P., Quiros, P. M., Gu, M., Jiang, T., Mitchell, J., Langdon, R., Iyer, V., Barcena, C., Vijayabaskar, M. S., Fabre, M. A., et al. (2022) · Nature Genetics

Acute Myeloid Leukemia ResearchGenetic Associations and Epidemiology

Cited by 377

Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine

Petrovski, S., & Goldstein, D. B. (2016) · Genome Biology

Genomics and Rare DiseasesRace, Genetics, and Society

Cited by 255

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Dobbs, K., Domínguez Conde, C., Zhang, S.-Y., Parolini, S., Audry, M., Chou, J., Haapaniemi, E., Keles, S., Bilic, I., Okada, S., et al. (2015) · New England Journal of Medicine

Immunodeficiency and Autoimmune DisordersBlood disorders and treatments

Cited by 201

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

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 185

One gene, many neuropsychiatric disorders: lessons from Mendelian diseases

Zhu, X., Need, A. C., Petrovski, S., & Goldstein, D. B. (2014) · Nature Neuroscience

Genetic Associations and EpidemiologyGenetics and Neurodevelopmental Disorders

Cited by 131

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Petrovski, S., Küry, S., Myers, C. T., Anyane-Yeboa, K., Cogné, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., et al. (2016) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 114

Time‐frequency mapping of the rhythmic limb movements distinguishes convulsive epileptic from psychogenic nonepileptic seizures

Bayly, J., Carino, J., Petrovski, S., Smit, M., Fernando, D. A., Vinton, A., Yan, B., Gubbi, J. R., Palaniswami, M. S., & O'Brien, T. J. (2013) · Epilepsia

Psychosomatic Disorders and Their TreatmentsEpilepsy research and treatment

Cited by 50

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

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

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

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