Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throug...
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
About this item
Full title
Author / Creator
Redin, Claire , Gérard, Bénédicte , Lauer, Julia , Herenger, Yvan , Muller, Jean , Quartier, Angélique , Masurel-Paulet, Alice , Willems, Marjolaine , Lesca, Gaétan , El-Chehadeh, Salima , Le Gras, Stéphanie , Vicaire, Serge , Philipps, Muriel , Dumas, Michaël , Geoffroy, Véronique , Feger, Claire , Haumesser, Nicolas , Alembik, Yves , Barth, Magalie , Bonneau, Dominique , Colin, Estelle , Dollfus, Hélène , Doray, Bérénice , Delrue, Marie-Ange , Drouin-Garraud, Valérie , Flori, Elisabeth , Fradin, Mélanie , Francannet, Christine , Goldenberg, Alice , Lumbroso, Serge , Mathieu-Dramard, Michèle , Martin-Coignard, Dominique , Lacombe, Didier , Morin, Gilles , Polge, Anne , Sukno, Sylvie , Thauvin-Robinet, Christel , Thevenon, Julien , Doco-Fenzy, Martine , Genevieve, David , Sarda, Pierre , Edery, Patrick , Isidor, Bertrand , Jost, Bernard , Olivier-Faivre, Laurence , Mandel, Jean-Louis and Piton, Amélie
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 Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. Several hundred genes have been associated to monogenic forms of ID, considerably complicating molecular diagnostics. Trio-exome sequencing was recently proposed as a diagnostic approach, yet remains costly for a general implementation. Methods We report t...
Alternative Titles
Full title
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Authors, Artists and Contributors
Author / Creator
Gérard, Bénédicte
Lauer, Julia
Herenger, Yvan
Muller, Jean
Quartier, Angélique
Masurel-Paulet, Alice
Willems, Marjolaine
Lesca, Gaétan
El-Chehadeh, Salima
Le Gras, Stéphanie
Vicaire, Serge
Philipps, Muriel
Dumas, Michaël
Geoffroy, Véronique
Feger, Claire
Haumesser, Nicolas
Alembik, Yves
Barth, Magalie
Bonneau, Dominique
Colin, Estelle
Dollfus, Hélène
Doray, Bérénice
Delrue, Marie-Ange
Drouin-Garraud, Valérie
Flori, Elisabeth
Fradin, Mélanie
Francannet, Christine
Goldenberg, Alice
Lumbroso, Serge
Mathieu-Dramard, Michèle
Martin-Coignard, Dominique
Lacombe, Didier
Morin, Gilles
Polge, Anne
Sukno, Sylvie
Thauvin-Robinet, Christel
Thevenon, Julien
Doco-Fenzy, Martine
Genevieve, David
Sarda, Pierre
Edery, Patrick
Isidor, Bertrand
Jost, Bernard
Olivier-Faivre, Laurence
Mandel, Jean-Louis
Piton, Amélie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4215287
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4215287
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2014-102554
