A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability,...
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
About this item
Full title
Author / Creator
de Boer, Elke , Ockeloen, Charlotte W , Matalonga, Leslie , Horvath, Rita , Rodenburg, Richard J , Coenen, Marieke J H , Janssen, Mirian , Henssen, Dylan , Gilissen, Christian , Steyaert, Wouter , Paramonov, Ida , Trimouille, Aurélien , Kleefstra, Tjitske , Verloes, Alain , Vissers, Lisenka E L M , Solve-RD SNV-indel working group and Solve-RD-DITF-ITHACA
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
The genetic etiology of intellectual disability remains elusive in almost half of all affected individuals. Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases with (syndromic) intellectual disability (n = 1,472 probands) was performed. This re-analysis included variant calling of mitoch...
Alternative Titles
Full title
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Authors, Artists and Contributors
Author / Creator
Ockeloen, Charlotte W
Matalonga, Leslie
Horvath, Rita
Rodenburg, Richard J
Coenen, Marieke J H
Janssen, Mirian
Henssen, Dylan
Gilissen, Christian
Steyaert, Wouter
Paramonov, Ida
Trimouille, Aurélien
Kleefstra, Tjitske
Verloes, Alain
Vissers, Lisenka E L M
Solve-RD SNV-indel working group
Solve-RD-DITF-ITHACA
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_461559
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_461559
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-021-00900-2
