Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in childr...
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
About this item
Full title
Author / Creator
Monroe, Glen R. , Frederix, Gerardus W. , Savelberg, Sanne M. C. , de Vries, Tamar I. , Duran, Karen J. , van der Smagt, Jasper J. , Terhal, Paulien A. , van Hasselt, Peter M. , Kroes, Hester Y. , Verhoeven-Duif, Nanda M. , Nijman, Isaäc J. , Carbo, Ellen C. , van Gassen, Koen L. , Knoers, Nine V. , Hövels, Anke M. , van Haelst, Mieke M. , Visser, Gepke and van Haaften, Gijs
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose:
This study investigated whole-exome sequencing (WES) yield in a subset of intellectually disabled patients referred to our clinical diagnostic center and calculated the total costs of these patients’ diagnostic trajectory in order to evaluate early WES implementation.
Methods:
We compared 17 patients’ trio-WES yield with the retro...
Alternative Titles
Full title
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
Authors, Artists and Contributors
Author / Creator
Frederix, Gerardus W.
Savelberg, Sanne M. C.
de Vries, Tamar I.
Duran, Karen J.
van der Smagt, Jasper J.
Terhal, Paulien A.
van Hasselt, Peter M.
Kroes, Hester Y.
Verhoeven-Duif, Nanda M.
Nijman, Isaäc J.
Carbo, Ellen C.
van Gassen, Koen L.
Knoers, Nine V.
Hövels, Anke M.
van Haelst, Mieke M.
Visser, Gepke
van Haaften, Gijs
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1816631480
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1816631480
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2015.200
