Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
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Author / Creator
Pizzo, Lucilla , Jensen, Matthew , Polyak, Andrew , Rosenfeld, Jill A , Mannik, Katrin , Krishnan, Arjun , Mccready, Elizabeth , Pichon, Olivier , Cedric Le Caignec , Anke Van Dijck , Pope, Kate , Voorhoeve, Els , Yoon, Jieun , Pawe Stankiewicz , Cheung, Sau Wai , Pazuchanics, Damian , Huber, Emily , Kumar, Vijay , Kember, Rachel , Mari, Francesca , Aurora Curr , Castiglia, Lucia , Galesi, Ornella , Avola, Emanuela , Mattina, Teresa , Fichera, Marco , Luana Mandar , Vincent, Marie , Nizon, Mathilde , Mercier, Sandra , Claire B n teau , Blesson, Sophie , Martin-Coignard, Dominique , Mosca-Boidron, Anne-Laure , Jean Hubert Caberg , Bucan, Maja , Zeesman, Susan , Ma gorzata Jm Nowaczyk , Lefebvre, Mathilde , Faivre, Laurence , Callier, Patrick , Skinner, Cindy , Keren, Boris , Perrine, Charles , Prontera, Paolo , Marle, Nathalie , Renieri, Alessandra , Reymond, Alexandre , Kooy, R Frank , Bertrand Isidor , Schwartz, Charles , Romano, Corrado , Sistermans, Erik , Amor, David J , Andrieux, Joris and Girirajan, Santhosh
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
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Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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More information
Scope and Contents
Contents
Purpose: To assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations. Methods: We analyzed quantitative clinical information, exome-sequencing, and microarray data from 757 probands and 233 parents and si...
Alternative Titles
Full title
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
Authors, Artists and Contributors
Author / Creator
Jensen, Matthew
Polyak, Andrew
Rosenfeld, Jill A
Mannik, Katrin
Krishnan, Arjun
Mccready, Elizabeth
Pichon, Olivier
Cedric Le Caignec
Anke Van Dijck
Pope, Kate
Voorhoeve, Els
Yoon, Jieun
Pawe Stankiewicz
Cheung, Sau Wai
Pazuchanics, Damian
Huber, Emily
Kumar, Vijay
Kember, Rachel
Mari, Francesca
Aurora Curr
Castiglia, Lucia
Galesi, Ornella
Avola, Emanuela
Mattina, Teresa
Fichera, Marco
Luana Mandar
Vincent, Marie
Nizon, Mathilde
Mercier, Sandra
Claire B n teau
Blesson, Sophie
Martin-Coignard, Dominique
Mosca-Boidron, Anne-Laure
Jean Hubert Caberg
Bucan, Maja
Zeesman, Susan
Ma gorzata Jm Nowaczyk
Lefebvre, Mathilde
Faivre, Laurence
Callier, Patrick
Skinner, Cindy
Keren, Boris
Perrine, Charles
Prontera, Paolo
Marle, Nathalie
Renieri, Alessandra
Reymond, Alexandre
Kooy, R Frank
Bertrand Isidor
Schwartz, Charles
Romano, Corrado
Sistermans, Erik
Amor, David J
Andrieux, Joris
Girirajan, Santhosh
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2068835263
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2068835263
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/257758
How to access this item
https://www.proquest.com/docview/2068835263?pq-origsite=primo&accountid=13902
