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Personal profile

Education/Academic qualification

Biological technology, Tekniikan kandidaatti, Aalto University

Keywords

  • 3111 Biomedicine
  • 318 Medical biotechnology

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

Publications 2017 2019

Diagnostic implications of genetic copy number variation in epilepsy plus

EuroEPINOMICS- RES Consortium, EpiCNV Consortium, Coppola, A., Cellini, E., Saarentaus, E., Palotie, A., Lehesjioki, A-E. & von Spiczak, S., Apr 2019, In : Epilepsia. 60, 4, p. 689-706 18 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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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., Karhu, A., Taira, A., Tanskanen, T., Alkodsi, A., Taipale, M., Morgunova, E., Franssila, K., Lehtonen, R., Mäkinen, M., Aittomäki, K. & 15 othersPalotie, A., Kurki, M., Pietiläinen, O., Hilpert, M., Saarentaus, E., Niinimäki, J., Junttila, J., Kaikkonen, K., Vahteristo, P., Skoda, R. C., Seppänen, M. R. J., Eklund, K. K., Taipale, J., Kilpivaara, O. & Aaltonen, L. A., 19 Mar 2019, In : Nature Communications. 10, 17 p., 1252.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Duplications at 19q13.33 in patients with neurodevelopmental disorders

Perez-Palma, E., Saarentaus, E., Ravoet, M., De Ferrari, G. V., Nuernberg, P., Isidor, B., Neubauer, B. A. & Lal, D., Feb 2018, In : Neurology Genetics. 4, 1, 7 p., 210.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Heterozygous TYROBP deletion (PLOSLFIN) is not a strong risk factor for cognitive impairment

Kaivola, K., Jansson, L., Saarentaus, E., Kiviharju, A., Rantalainen, V., Eriksson, J. G., Strandberg, T. E., Polvikoski, T., Myllykangas, L. & Tienari, P. J., Apr 2018, In : Neurobiology of Aging. 64, 4 p., ARTN 159.e1.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

GoT2D T2D-GENES Consortium, SIGMA Consortium Helmsley IBD Exom, FinMetSeq Consortium & iPSYCH-Broad Consortium, 7 Jun 2018, In : American Journal of Human Genetics. 102, 6, p. 1204-1211 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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