Department of Medical and Clinical Genetics

  • Finland

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

Projects

Kielitieteellisiä näkökulmia lajienvälisiin yhteisöihin: ihmisen ja toislajisen eläimen vuorovaikutus, kielioppi ja teksti

Jääskeläinen, A., Laitinen, L., Peltola, R., Simonen, M. & Vihelmaa, E.

01/01/201931/12/2021

Project: Research project

Finngen: FinnGen

Palotie, A., Pitkänen, K., Jalanko, A., Lyhs, U., Donner, K. M., Kaunisto, M., Kurki, M. I., Kristiansson, K., Laiho, P., Laivuori, H., Loukola, A., Palta, P., Perola, M., Kajanne, R., Harju, J. J. & Havulinna, A.

15/08/2017 → …

Project: Research project

Human-Dog Interaction Study

Simonen, M.

01/01/201731/12/2020

Project: Research project

HLA-alueen geenien yhteys HELLP-oireyhtymään

Heikkinen-Eloranta, J., Laivuori, H., Lokki, A. I. & Lokki, M.

31/10/2013 → …

Project: Research project

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

A clinical scoring system for congenital contractural arachnodactyly

Meerschaut, I., De Coninck, S., Steyaert, W., Barnicoat, A., Bayat, A., Benedicenti, F., Berland, S., Blair, E. M., Breckpot, J., De Burca, A., Destree, A., Garcia-Minaur, S., Green, A. J., Hanna, B. C., Keymolen, K., Koopmans, M., Lederer, D., Lees, M., Longman, C., Lynch, S. A. & 23 others, Male, A. M., McKenzie, F., Migeotte, I., Mihci, E., Nur, B., Petit, F., Piard, J., Plasschaert, F. S., Rauch, A., Ribai, P., Pacheco, I. S., Stanzial, F., Stolte-Dijkstra, I., Valenzuela, I., Varghese, V., Vasudevan, P. C., Wakeling, E., Wallgren-Pettersson, C., Coucke, P., De Paepe, A., De Wolf, D., Symoens, S. & Callewaert, B., Jan 2020, In : Genetics In medicine. 22, 1, p. 124-131 8 p.

Research output: Contribution to journalArticleScientificpeer-review

A Missense Variant Affecting the C-Terminal Tail of UNC93B1 in Dogs with Exfoliative Cutaneous Lupus Erythematosus (ECLE)

Leeb, T., Leuthard, F., Jagannathan, V., Kiener, S., Letko, A., Roosje, P., Welle, M. M., Gailbreath, K. L., Cannon, A., Linek, M., Banovic, F., Olivry, T., White, S. D., Batcher, K., Bannasch, D., Minor, K. M., Mickelson, J. R., Hytönen, M. K., Lohi, H., Mauldin, E. A. & 1 others, Casal, M. L., Feb 2020, In : Genes. 11, 2, 10 p., 159.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

Nevanlinna, V., Konovalova, S., Ceulemans, B., Muona, M., Laari, A., Hilander, T., Gorski, K., Valanne, L., Anttonen, A-K., Tyynismaa, H., Carolina, C. & Anna-Elina, L., Mar 2020, In : European Journal of Medical Genetics. 63, 3, 7 p., 103766.

Research output: Contribution to journalArticleScientificpeer-review

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa

Kaukonen, M., Quintero, I. B., Mukarram, A. K., Hytönen, M. K., Holopainen, S., Wickström, K., Kyöstilä, K., Arumilli, M., Jalomäki, S., Daub, C. O., Kere, J., Lohi, H. & Consortium, T. DA., 9 Mar 2020, In : PLoS Genetics. 16, 3, 20 p., 1008659.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Activities

The effect of music listening and performance on gene expression and regulation

Irma Järvelä (Speaker)
18 Feb 2020

Activity: Talk or presentation typesOral presentation

Invited speaker: Helsinki Health Week, Tiedekulma

Nina Kaminen-Ahola (Speaker)
4 Feb 2020

Activity: Talk or presentation typesInvited talk

Suomen Tiedeseura (External organisation)

Hannes Lohi (Board member)
2020 → …

Activity: Membership typesMembership or other role in public Finnish or international organization

Supervision of MSc thesis

Nina Kaminen-Ahola (Supervisor)
Jan 2020 → …

Activity: Examination typesSupervision of other thesis (Master's, Licentiate)

EHTG Meeting 2019

Satu Mäki-Nevala (Speaker: Presenter)
17 Oct 201919 Oct 2019

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

Prizes

Abbott Award of Molecular diagnostics

Leena Palotie (Recipient), 2002

Prize: Prizes and awards

Academy Professor

Lauri Aaltonen (Recipient), 2009

Prize: Prizes and awards

Animal Protection Award

Hannes Lohi (Recipient), 2019

Prize: Prizes and awards

Best doctoral thesis

Tiina Jääskeläinen (Recipient), 2010

Prize: Prizes and awards

Celiac disease researcher of the year

Päivi Saavalainen (Recipient), 20 Nov 2015

Prize: Prizes and awards

Datasets

Feline biobank

Lohi, H. (Creator), University of Helsinki, 2017

Dataset

Canine biobank

Lohi, H. (Creator), University of Helsinki, 2017

Dataset

Press / Media

Interview for Naisasiatoimisto Kaartamo ja Tapanainen, YLE Puhe

Nina Kaminen-Ahola

27/11/2019

1 item of Media coverage

Press/Media: Press / Media

Finnish diseases

Irma Järvelä

16/11/2019

1 item of Media coverage

Press/Media: Press / Media

Minä väitän /Helsingin Sanomat 15.10.2019

Tiina Jääskeläinen

15/10/2019

1 Media contribution

Press/Media: Press / Media

Lapsen maailma

Irma Järvelä

01/10/2019

1 item of Media coverage

Press/Media: Press / Media