Rare variants in the genetic background modulate cognitive and developmental phenotypes in individua...
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
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Author / Creator
Pizzo, Lucilla , Jensen, Matthew , Polyak, Andrew , Rosenfeld, Jill A. , Mannik, Katrin , Krishnan, Arjun , McCready, Elizabeth , Pichon, Olivier , Le Caignec, Cedric , Van Dijck, Anke , Pope, Kate , Voorhoeve, Els , Yoon, Jieun , Stankiewicz, Paweł , Cheung, Sau Wai , Pazuchanics, Damian , Huber, Emily , Kumar, Vijay , Kember, Rachel L. , Mari, Francesca , Curró, Aurora , Castiglia, Lucia , Galesi, Ornella , Avola, Emanuela , Mattina, Teresa , Fichera, Marco , Mandarà, Luana , Vincent, Marie , Nizon, Mathilde , Mercier, Sandra , Bénéteau, Claire , Blesson, Sophie , Martin-Coignard, Dominique , Mosca-Boidron, Anne-Laure , Caberg, Jean-Hubert , Bucan, Maja , Zeesman, Susan , Nowaczyk, Małgorzata J. M. , Lefebvre, Mathilde , Faivre, Laurence , Callier, Patrick , Skinner, Cindy , Keren, Boris , Perrine, Charles , Prontera, Paolo , Marle, Nathalie , Renieri, Alessandra , Reymond, Alexandre , Kooy, R. Frank , Isidor, Bertrand , Schwartz, Charles , Romano, Corrado , Sistermans, Erik , Amor, David J. , Andrieux, Joris and Girirajan, Santhosh
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
To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants.
Methods
We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents a...
Alternative Titles
Full title
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Authors, Artists and Contributors
Author / Creator
Jensen, Matthew
Polyak, Andrew
Rosenfeld, Jill A.
Mannik, Katrin
Krishnan, Arjun
McCready, Elizabeth
Pichon, Olivier
Le Caignec, Cedric
Van Dijck, Anke
Pope, Kate
Voorhoeve, Els
Yoon, Jieun
Stankiewicz, Paweł
Cheung, Sau Wai
Pazuchanics, Damian
Huber, Emily
Kumar, Vijay
Kember, Rachel L.
Mari, Francesca
Curró, Aurora
Castiglia, Lucia
Galesi, Ornella
Avola, Emanuela
Mattina, Teresa
Fichera, Marco
Mandarà, Luana
Vincent, Marie
Nizon, Mathilde
Mercier, Sandra
Bénéteau, Claire
Blesson, Sophie
Martin-Coignard, Dominique
Mosca-Boidron, Anne-Laure
Caberg, Jean-Hubert
Bucan, Maja
Zeesman, Susan
Nowaczyk, Małgorzata J. M.
Lefebvre, Mathilde
Faivre, Laurence
Callier, Patrick
Skinner, Cindy
Keren, Boris
Perrine, Charles
Prontera, Paolo
Marle, Nathalie
Renieri, Alessandra
Reymond, Alexandre
Kooy, R. Frank
Isidor, Bertrand
Schwartz, Charles
Romano, Corrado
Sistermans, Erik
Amor, David J.
Andrieux, Joris
Girirajan, Santhosh
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6405313
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6405313
Other Identifiers
ISSN
1098-3600,1530-0366
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0266-3
