The clinical significance of small copy number variants in neurodevelopmental disorders
The clinical significance of small copy number variants in neurodevelopmental disorders
About this item
Full title
Author / Creator
Asadollahi, Reza , Oneda, Beatrice , Joset, Pascal , Azzarello-Burri, Silvia , Bartholdi, Deborah , Steindl, Katharina , Vincent, Marie , Cobilanschi, Joana , Sticht, Heinrich , Baldinger, Rosa , Reissmann, Regina , Sudholt, Irene , Thiel, Christian T , Ekici, Arif B , Reis, André , Bijlsma, Emilia K , Andrieux, Joris , Dieux, Anne , FitzPatrick, David , Ritter, Susanne , Baumer, Alessandra , Latal, Beatrice , Plecko, Barbara , Jenni, Oskar G and Rauch, Anita
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
Background Despite abundant evidence for pathogenicity of large copy number variants (CNVs) in neurodevelopmental disorders (NDDs), the individual significance of genome-wide rare CNVs <500 kb has not been well elucidated in a clinical context. Methods By high-resolution chromosomal microarray analysis, we investigated the clinical significance of...
Alternative Titles
Full title
The clinical significance of small copy number variants in neurodevelopmental disorders
Authors, Artists and Contributors
Author / Creator
Oneda, Beatrice
Joset, Pascal
Azzarello-Burri, Silvia
Bartholdi, Deborah
Steindl, Katharina
Vincent, Marie
Cobilanschi, Joana
Sticht, Heinrich
Baldinger, Rosa
Reissmann, Regina
Sudholt, Irene
Thiel, Christian T
Ekici, Arif B
Reis, André
Bijlsma, Emilia K
Andrieux, Joris
Dieux, Anne
FitzPatrick, David
Ritter, Susanne
Baumer, Alessandra
Latal, Beatrice
Plecko, Barbara
Jenni, Oskar G
Rauch, Anita
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4173859
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4173859
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2014-102588
