Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons...
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
About this item
Full title
Author / Creator
Lowther, Chelsea , Speevak, Marsha , Armour, Christine M. , Goh, Elaine S. , Graham, Gail E. , Li, Chumei , Zeesman, Susan , Nowaczyk, Malgorzata J.M. , Schultz, Lee-Anne , Morra, Antonella , Nicolson, Rob , Bikangaga, Peter , Samdup, Dawa , Zaazou, Mostafa , Boyd, Kerry , Jung, Jack H. , Siu, Victoria , Rajguru, Manjulata , Goobie, Sharan , Tarnopolsky, Mark A. , Prasad, Chitra , Dick, Paul T. , Hussain, Asmaa S. , Walinga, Margreet , Reijenga, Renske G. , Gazzellone, Matthew , Lionel, Anath C. , Marshall, Christian R. , Scherer, Stephen W. , Stavropoulos, Dimitri J. , McCready, Elizabeth and Bassett, Anne S.
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
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More information
Scope and Contents
Contents
The purpose of the current study was to assess the penetrance of NRXN1 deletions.
We compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant copy-number variations (CNVs) was used as a proxy to estimate the relative pe...
Alternative Titles
Full title
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Authors, Artists and Contributors
Author / Creator
Speevak, Marsha
Armour, Christine M.
Goh, Elaine S.
Graham, Gail E.
Li, Chumei
Zeesman, Susan
Nowaczyk, Malgorzata J.M.
Schultz, Lee-Anne
Morra, Antonella
Nicolson, Rob
Bikangaga, Peter
Samdup, Dawa
Zaazou, Mostafa
Boyd, Kerry
Jung, Jack H.
Siu, Victoria
Rajguru, Manjulata
Goobie, Sharan
Tarnopolsky, Mark A.
Prasad, Chitra
Dick, Paul T.
Hussain, Asmaa S.
Walinga, Margreet
Reijenga, Renske G.
Gazzellone, Matthew
Lionel, Anath C.
Marshall, Christian R.
Scherer, Stephen W.
Stavropoulos, Dimitri J.
McCready, Elizabeth
Bassett, Anne S.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4980119
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4980119
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2016.54
