Mary Patricia Reeve

Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis

Niuro, L., Ojala, J., Ravi, R., Melnyk, V., Linnossuo, V., Palmu, S., Jännäri, M., Tyystjärvi, S., Löf, C., Patyra, K., Makkonen, K., Jääskeläinen, J., Danner, E., Huopio, H., Niinikoski, H., Viikari, L., Kero, A., Miettinen, P., Schoenmakers, N. & FinnGen & 2 andra, Reeve, M. P. & Kero, J., 22 jan. 2026, I: Thyroid. 12 s.

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Dissecting pleiotropy to gain mechanistic insights into human disease

Jee, Y. H., He, Y., Lu, W., Shi, Y., Lazarev, D., Daly, M. J., Reeve, M. P. & Martin, A. R., 28 nov. 2025, I: Nature Reviews Genetics. 14 s.

Forskningsoutput: Tidskriftsbidrag › Översiktsartikel › Peer review

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

Mak, J. K. L., Qin, C., Krüger, M., Kuukka, A., FinnGen, Hägg, S., Lin, J., Jylhävä, J., Mäkitie, A., Palotie, A., Daly, M., Mäkelä, T. P., Kaprio, J., Partanen, J., Pitkäranta, A., Raivio, T., Ripatti, S., Arvas, M., Carpen, O. & Raivio, M. & 88 andra, Tienari, P., Partanen, J., Färkkilä, M., Koskela, J., Pikkarainen, S., Eklund, K., Mars, N., Kauppi, P., Gordin, D., Sinisalo, J., Taskinen, M.-R., Tuomi, T., Hiltunen, T., Elliott, A., Reeve, M. P., Ruotsalainen, S., Joensuu, H., Mattson, J., Salminen, E., Pitkänen, E., Turunen, J. A., Ollila, T., Karjalainen, J., Hannula-Jouppi, K., Pussinen, P., Salminen, A., Salo, T., Rice, D., Nieminen, P., Palotie, U., Laivuori, H., Heikinheimo, O., Kalliala, I., Aaltonen, L., Widen, E., Tukiainen, T., Välimäki, N., Hovatta, I., Isometsä, E., Ollila, H., Toppila-Salmi, S., Aarnisalo, A., Aittomäki, K., Åberg, F., Kurki, M., Havulinna, A., Mehtonen, J., Palta, P., Hassan, S., Della Briotta Parolo, P., Lemmelä, S., Liu, A., Lehisto, A. A., Ganna, A., Llorens, V., Heyne, H., Rämö, J., Rodosthenous, R., Strausz, S., Palotie, T., Palin, K., Kiiskinen, T., Lee, J., Tsuo, K., Hyvärinen, K., Ritari, J., Punkka, E., Jalanko, A., Shen, H.-Y., Kajanne, R., Aavikko, M., Cooper, H., Öller, D., Leinonen, R., Linna, M.-M., Lahtela, L. E., Kaunisto, M., Kilpeläinen, E., Sipilä, T. P., Dada, O. A., Ghazal, A., Kytölä, A., Weldatsadik, R., Donner, K., Loukola, A., Luo, S., Padmanabhuni, S. S. & Tammerluoto, J., 5 aug. 2025, I: Nature Aging. 5, 8, s. 1589–1600 12 s.

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Loss of CFHR5 function reduces the risk for age-related macular degeneration

FinnGen, Reeve, M. P., Loomis, S., Nissilä, E., Soare, T. W., Rausch, T., Zheng, Z., della Briotta Parolo, P., Ben-Isvy, D., Aho, E., Cesetti, E., Okunuki, Y., McLaughlin, H., Mäkelä, J., Kurki, M., Talkowski, M. E., Korbel, J. O., Connor, K., Meri, S. & Daly, M. J. & 1 andra, Runz, H., 1 juli 2025, I: Nature Communications. 16, 1, 15 s., 5766.

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Fil

Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank

FinnGen, Davis, S. M., Liu, A., Teerlink, C. C., Genovese, G., Reeve, M. P., Donner, K. M., Sipilä, T. P., Ghazal, A., Ganna, A., Daly, M. J. & Hauger, R. L., 4 sep. 2025, I: American Journal of Human Genetics. 112, 9, s. 2088-2101 15 s.

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Mary Patricia Reeve

Samarbeten och ledande forskningsområden under de senaste fem åren

Fördjupning

Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis

Dissecting pleiotropy to gain mechanistic insights into human disease

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

Loss of CFHR5 function reduces the risk for age-related macular degeneration

Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank

Mary Patricia Reeve

Samarbeten och ledande forskningsområden under de senaste fem åren

Forskningsresultat

Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis

Dissecting pleiotropy to gain mechanistic insights into human disease

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

Loss of CFHR5 function reduces the risk for age-related macular degeneration

Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank