Kurki, Mitja

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,587

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

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,924

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Study, S. S., Singh, T., Study, I., Study, D., UK10 K Consortium, Kurki, M. I., Curtis, D., Purcell, S. M., Crooks, L., McRae, J., et al. (2016) · Nature Neuroscience

Schizophrenia research and treatmentGenomics and Rare Diseases

Cited by 452

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 248

Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

Strausz, S., Ruotsalainen, S., Ollila, H. M., Karjalainen, J., Kiiskinen, T., Reeve, M., Kurki, M., Mars, N., Havulinna, A. S., Luonsi, E., et al. (2021) · European Respiratory Journal

Obstructive Sleep Apnea ResearchGenetic Associations and Epidemiology

Cited by 194

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Zhou, W., Brumpton, B., Kabil, O., Gudmundsson, J., Thorleifsson, G., Weinstock, J., Zawistowski, M., Nielsen, J. B., Chaker, L., Medici, M., et al. (2020) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 129

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Muona, M., Ishimura, R., Laari, A., Ichimura, Y., Linnankivi, T., Keski-Filppula, R., Herva, R., Rantala, H., Paetau, A., Pöyhönen, M., et al. (2016) · The American Journal of Human Genetics

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental Disorders

Cited by 119

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Ganna, A., Satterstrom, F. K., Zekavat, S. M., Das, I., Kurki, M. I., Churchhouse, C., Alfoldi, J., Martin, A. R., Havulinna, A. S., Byrnes, A., et al. (2018) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 110

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Kaasinen, E., Kuismin, O., Rajamäki, K., Ristolainen, H., Aavikko, M., Kondelin, J., Saarinen, S., Berta, D. G., Katainen, R., Hirvonen, E. A. M., et al. (2019) · Nature Communications

Acute Myeloid Leukemia ResearchEpigenetics and DNA Methylation

Cited by 92

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Rivas, M. A., Avila, B. E., Koskela, J., Huang, H., Stevens, C., Pirinen, M., Haritunians, T., Neale, B. M., Kurki, M., Ganna, A., et al. (2018) · PLoS Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 87

Transcriptomics and mechanistic elucidation of Alzheimer's disease risk genes in the brain and in vitro models

Martiskainen, H., Viswanathan, J., Nykänen, N.-P., Kurki, M., Helisalmi, S., Natunen, T., Sarajärvi, T., Kurkinen, K. M. A., Pursiheimo, J.-P., Rauramaa, T., et al. (2015) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 70

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

Nehme, R., Pietiläinen, O., Artomov, M., Tegtmeyer, M., Valakh, V., Lehtonen, L., Bell, C., Singh, T., Trehan, A., Sherwood, J., et al. (2022) · Nature Communications

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 58

Extending the phenotypic spectrum of RBFOX 1 deletions: Sporadic focal epilepsy

Lal, D., Pernhorst, K., Klein, K. M., Reif, P., Tozzi, R., Toliat, M. R., Winterer, G., Neubauer, B., Nürnberg, P., Rosenow, F., et al. (2015) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 40

Non-microglial downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease-related hallmarks

Coulon, A., Rabiller, F., Takalo, M., Roy, A., Pelletier, A., Martiskainen, H., Siedlecki-Wullich, D., Lannette-Weimann, N., Majerníková, N., Grenon, A., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory)

Alzheimer's disease research and treatmentsNeuroscience and Neuropharmacology Research

Cited by 3

PLCG2 downregulation impairs synaptic function and increases Alzheimer’s disease hallmarks in neuronal cultures

Coulon, A., Rabiller, F., Takalo, M., Roy, A., Pelletier, A., Martiskainen, H., Siedlecki-Wullich, D., Lannette-Weimann, N., Majerníková, N., Grenon, A., et al. (2026) · Nature Genetics

Alzheimer's disease research and treatmentsNeuroscience and Neuropharmacology Research

Cited by 1