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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Crossref DOI link: https://doi.org/10.1186/s13073-019-0675-1

Published Online: 2019-11-07

Published Print: 2019-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Lindstrand, Anna https://orcid.org/0000-0003-0806-5602
Eisfeldt, Jesper

Pettersson, Maria

Carvalho, Claudia M. B.

Kvarnung, Malin

Grigelioniene, Giedre

Anderlid, Britt-Marie

Bjerin, Olof

Gustavsson, Peter

Hammarsjö, Anna

Georgii-Hemming, Patrik

Iwarsson, Erik

Johansson-Soller, Maria

Lagerstedt-Robinson, Kristina

Lieden, Agne

Magnusson, Måns

Martin, Marcel

Malmgren, Helena

Nordenskjöld, Magnus

Norling, Ameli

Sahlin, Ellika

Stranneheim, Henrik

Tham, Emma

Wincent, Josephine

Ygberg, Sofia

Wedell, Anna

Wirta, Valtteri

Nordgren, Ann

Lundin, Johanna

Nilsson, Daniel
Funding

Funding for this research was provided by:

Science for Life Laboratory (National sequencing grant)

Stockholm County Council

Vetenskapsrådet (2018-02652, 2017-02936)

Hjärnfonden (None, None)

Karolinska Institutet (KID)

Knut and Alice Wallenberg Foundation (National Bioinformatics Infrastructure Sweden, SciLifeLab)

Bertil Hållstens Forskningsstiftelse (None)

Kungliga Fysiografiska Sällskapet i Lund (Nilsson-Ehle donationerna)
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Article History

Received: 7 May 2019

Accepted: 9 October 2019

First Online: 7 November 2019

Ethics approval and consent to participate

: The Regional Ethical Review Board in Stockholm, Sweden, approved the study (ethics permit numbers KS 2012/222-31/3 and 2012/2106-31/4). This ethics permit allows for use of clinical samples for analysis of scientific importance as part of clinical development. Included subjects were part of clinical cohorts investigated at our center. IRB approval for informed consent to participate in the study was waived; written informed consent was obtained for those participants for whom potentially identifiable clinical information was included in the manuscript. The research conformed to the principles of the Helsinki Declaration.

: Written informed consent was obtained to publish clinical information.

: The authors declare that they have no competing interests.

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