Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A r...
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
About this item
Full title
Author / Creator
Hebert, Anne , Simons, Annet , Schuurs-Hoeijmakers, Janneke H M , Koenen, Hans J P M , Zonneveld-Huijssoon, Evelien , Henriet, Stefanie S V , Schatorjé, Ellen J H , Hoppenreijs, Esther P A H , Leenders, Erika K S M , Janssen, Etienne J M , Santen, Gijs W E , de Munnik, Sonja A , van Reijmersdal, Simon V , van Rijssen, Esther , Kersten, Simone , Netea, Mihai G , Smeets, Ruben L , van de Veerdonk, Frank L , Hoischen, Alexander and van der Made, Caspar I
Publisher
England: eLife Sciences Publications Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: eLife Sciences Publications Ltd
Subjects
More information
Scope and Contents
Contents
variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI).
This study explored the potential added value of systematic assessment of DNVs in a retrospective cohort of 123 patients with a suspected sporadic IEI that underwent patient...
Alternative Titles
Full title
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
Authors, Artists and Contributors
Author / Creator
Simons, Annet
Schuurs-Hoeijmakers, Janneke H M
Koenen, Hans J P M
Zonneveld-Huijssoon, Evelien
Henriet, Stefanie S V
Schatorjé, Ellen J H
Hoppenreijs, Esther P A H
Leenders, Erika K S M
Janssen, Etienne J M
Santen, Gijs W E
de Munnik, Sonja A
van Reijmersdal, Simon V
van Rijssen, Esther
Kersten, Simone
Netea, Mihai G
Smeets, Ruben L
van de Veerdonk, Frank L
Hoischen, Alexander
van der Made, Caspar I
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_1943927502a7424bb65899a7d0d2b45e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1943927502a7424bb65899a7d0d2b45e
Other Identifiers
ISSN
2050-084X
E-ISSN
2050-084X
DOI
10.7554/eLife.78469
