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Personal profile

Fields of Science

  • 3111 Biomedicine

International and National Collaboration Publications and projects within past five years.

Publications

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Lorenzini, T., Fliegauf, M., Klammer, N., Frede, N., Proietti, M., Bulashevska, A., Camacho-Ordonez, N., Varjosalo, M., Kinnunen, M., de Vries, E., van der Meer, J. W. M., Ameratunga, R., Roifman, C. M., Schejter, Y. D., Kobbe, R., Hautala, T., Atschekzei, F., Schmidt, R. E., Schröder, C., Stepensky, P. & 54 others, Shadur, B., Pedroza, L. A., van der Flier, M., Martínez-Gallo, M., Gonzalez-Granado, L. I., Allende, L. M., Shcherbina, A., Kuzmenko, N., Zakharova, V., Neves, J. F., Svec, P., Fischer, U., Ip, W., Bartsch, O., Barış, S., Klein, C., Geha, R., Chou, J., Alosaimi, M., Weintraub, L., Boztug, K., Hirschmugl, T., Dos Santos Vilela, M. M., Holzinger, D., Seidl, M., Lougaris, V., Plebani, A., Alsina, L., Piquer-Gibert, M., Deyà-Martínez, A., Slade, C. A., Aghamohammadi, A., Abolhassani, H., Hammarström, L., Kuismin, O., Helminen, M., Allen, H. L., Thaventhiran, J. E., Freeman, A. F., Cook, M., Bakhtiar, S., Christiansen, M., Cunningham-Rundles, C., Patel, N. C., Rae, W., Niehues, T., Brauer, N., Syrjänen, J., Seppänen, M. R. J., Burns, S. O., Tuijnenburg, P., Kuijpers, T. W., Warnatz, K. & Grimbacher, B., 9 Apr 2020, In : Journal of Allergy and Clinical Immunology.

Research output: Contribution to journalArticleScientificpeer-review

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?

Tolonen, J-P., Hekkala, A., Kuismin, O., Tuominen, H., Suo-Palosaari, M., Tynninen, O. & Niinimaki, R., 17 May 2020, In : Molecular Genetics & Genomic Medicine. 5 p., 1302.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Tonsillar granuloma associated with hypogammaglobulinemia

Laajala, A., Kuismin, O., Tastula, M., Tiitto, L., Kauppila, S., Salo, A., Astrom, P., Nissinen, A., Glumoff, V., Seppänen, M. R. J. & Hautala, T., 29 May 2020, In : Allergy, Asthma, and Clinical Immunology. 16, 1, 6 p., 43.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Rahikkala, E., Myllykoski, M., Hinttala, R., Vieira, P., Nayebzadeh, N., Weiss, S., Plomp, A. S., Bittner, R. E., Kurki, M. I., Kuismin, O., Lewis, A. M., Väisänen, M-L., Kokkonen, H., Westermann, J., Bernert, G., Tuominen, H., Palotie, A., Aaltonen, L., Yang, Y., Potocki, L. & 6 others, Moilanen, J., van Koningsbruggen, S., Wang, X., Schmidt, W. M., Koivunen, P. & Uusimaa, J., Oct 2019, In : Genetics In medicine. 21, 10, p. 2355-2363 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Kurki, M. I., Saarentaus, E. C., Pietiläinen, O., Gormley, P., Lal, D., Kerminen, S., Torniainen-Holm, M., Hämäläinen, E., Rahikkala, E., Keski-Filppula, R., Rauhala, M., Korpi-Heikkila, S., Komulainen-Ebrahim, J., Helander, H., Vieira, P., Männikkö, M., Peltonen, M., Havulinna, A., Salomaa, V., Pirinen, M. & 6 others, Suvisaari, J., Moilanen, J. S., Körkkö, J., Kuismin, O., Daly, M. & Palotie, A., 24 Jan 2019, In : Nature Communications. 10, 1, 15 p., 410.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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