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A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

Year of publication

2022

Authors

Rahikkala, Elisa; Urpa, Lea; Ghimire, Bishwa; Topa, Hande; Kurki, Mitja I.; Koskela, Maryna; Airavaara, Mikko; Hämäläinen, Eija; Pylkäs, Katri; Körkkö, Jarmo; Savolainen, Helena; Suoranta, Anu; Bertoli-Avella, Aida; Rolfs, Arndt; Mattila, Pirkko; Daly, Mark; Palotie, Aarno; Pietiläinen, Olli; Moilanen, Jukka; Kuismin, Outi
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Organizations and authors

Oulu University Hospital

Pylkäs Katri

Rahikkala Elisa

Helsinki University Hospital

Palotie Aarno

Suoranta Anu

Ghimire Bishwa

Hämäläinen Eija

Topa Hande

Urpa Lea

Daly Mark

Koskela Maryna

Airavaara Mikko

Kurki Mitja

Pietiläinen Olli

Kuismin Outi

Mattila Pirkko

University of Oulu

Rahikkala Elisa Orcid -palvelun logo

Moilanen Jukka Orcid -palvelun logo

Kuismin Outi

Pylkäs Katri Orcid -palvelun logo

University of Turku

Rahikkala Elisa

University of Helsinki

Palotie Aarno

Suoranta Anu

Ghimire Bishwa

Hämäläinen Eija

Topa Hande

Urpa Lea

Daly Mark

Koskela Maryna

Airavaara Mikko

Kurki Mitja

Pietiläinen Olli

Kuismin Outi

Mattila Pirkko

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal/Series

European journal of human genetics

Parent publication name

European Journal of Human Genetics

Volume

30

Issue

5

Pages

619-627

ISSN

1018-4813

​Publication forum

55732

​Publication forum level

1

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

License of the publisher’s version

CC BY

Self-archived

Yes

Other information

Fields of science

Medical biotechnology; Genetics, developmental biology, physiology; Biomedicine

Keywords

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Publication country

United Kingdom

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

Yes

DOI

10.1038/s41431-022-01046-5

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes