Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genet...
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
About this item
Full title
Author / Creator
Pfundt, Rolph , del Rosario, Marisol , Vissers, Lisenka E.L.M. , Kwint, Michael P. , Janssen, Irene M. , de Leeuw, Nicole , Yntema, Helger G. , Nelen, Marcel R. , Lugtenberg, Dorien , Kamsteeg, Erik-Jan , Wieskamp, Nienke , Stegmann, Alexander P.A. , Stevens, Servi J.C. , Rodenburg, Richard J.T. , Simons, Annet , Mensenkamp, Arjen R. , Rinne, Tuula , Gilissen, Christian , Scheffer, Hans , Veltman, Joris A. and Hehir-Kwa, Jayne Y.
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:
Copy-number variation is a common source of genomic variation and an important genetic cause of disease. Microarray-based analysis of copy-number variants (CNVs) has become a first-tier diagnostic test for patients with neurodevelopmental disorders, with a diagnostic yield of 10–20%. However, for most other genetic disorders, the role o...
Alternative Titles
Full title
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
Authors, Artists and Contributors
Author / Creator
del Rosario, Marisol
Vissers, Lisenka E.L.M.
Kwint, Michael P.
Janssen, Irene M.
de Leeuw, Nicole
Yntema, Helger G.
Nelen, Marcel R.
Lugtenberg, Dorien
Kamsteeg, Erik-Jan
Wieskamp, Nienke
Stegmann, Alexander P.A.
Stevens, Servi J.C.
Rodenburg, Richard J.T.
Simons, Annet
Mensenkamp, Arjen R.
Rinne, Tuula
Gilissen, Christian
Scheffer, Hans
Veltman, Joris A.
Hehir-Kwa, Jayne Y.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1905741200
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1905741200
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2016.163
