20012020

Research output per year

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

Publications

18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotype

Kahila, H., Marjonen, H., Auvinen, P., Avela, K., Riikonen, R. & Kaminen-Ahola, N., 25 Feb 2020, In : Molecular Genetics & Genomic Medicine. 9 p., 1192.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Polla, D. L., Rahikkala, E., Bode, M. K., Määttä, T., Varilo, T., Loman, T., Philips, A. K., Kurki, M., Palotie, A., Körkkö, J., Avela, K., Jacquemin, V., Pirson, I., Abramowicz, M., de Brouwer, A. P. M., Kuismin, O., van Bokhoven, H. & Järvelä, I., Aug 2019, In : European Journal of Human Genetics. 27, 8, p. 1235-1243 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Rare SUZ12 variants commonly cause an overgrowth phenotype

CAUSES Study, Cyrus, S. S., Cohen, A. S. A., Avela, K. & Gibson, W. T., Dec 2019, In : American journal of medical genetics. Part C, Seminars in medical genetics. 181, 4, p. 532-547 16 p.

Research output: Contribution to journalArticleScientificpeer-review

The genetic aetiology of retinal degeneration in children in Finland – new founder mutations identified

Avela, K., Salonen-Kajander, R., Laitinen, A., Ramsden, S., Barton, S. & Rudanko, S-L., Dec 2019, In : Acta ophthalmologica. 97, 8, p. 805-814 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

A founder mutation in CERKL is a major cause of retinal dystrophy in Finland

Avela, K., Sankila, E-M., Seitsonen, S., Kuuluvainen, L., Barton, S., Gillies, S. & Aittomäki, K., Mar 2018, In : Acta Ophthalmologica. 96, 2, p. 183-191 9 p.

Research output: Contribution to journalArticleScientificpeer-review