Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large...
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
About this item
Full title
Author / Creator
Mary, Laura , Piton, Amélie , Schaefer, Elise , Mattioli, Francesca , Nourisson, Elsa , Feger, Claire , Redin, Claire , Barth, Magali , El Chehadeh, Salima , Colin, Estelle , Coubes, Christine , Faivre, Laurence , Flori, Elisabeth , Geneviève, David , Capri, Yline , Perrin, Laurence , Fabre-Teste, Jennifer , Timbolschi, Dana , Verloes, Alain , Olaso, Robert , Boland, Anne , Deleuze, Jean-François , Mandel, Jean-Louis , Gerard, Bénédicte and Giurgea, Irina
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
High-throughput sequencing (HTS) of human genome coding regions allows the simultaneous screen of a large number of genes, significantly improving the diagnosis of non-syndromic intellectual disabilities (ID). HTS studies permit the redefinition of the phenotypical spectrum of known disease-causing genes, escaping the clinical inclusion bias of gen...
Alternative Titles
Full title
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
Authors, Artists and Contributors
Author / Creator
Piton, Amélie
Schaefer, Elise
Mattioli, Francesca
Nourisson, Elsa
Feger, Claire
Redin, Claire
Barth, Magali
El Chehadeh, Salima
Colin, Estelle
Coubes, Christine
Faivre, Laurence
Flori, Elisabeth
Geneviève, David
Capri, Yline
Perrin, Laurence
Fabre-Teste, Jennifer
Timbolschi, Dana
Verloes, Alain
Olaso, Robert
Boland, Anne
Deleuze, Jean-François
Mandel, Jean-Louis
Gerard, Bénédicte
Giurgea, Irina
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6018712
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6018712
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0096-4
