Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

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 costl...

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Detalles Bibliográficos
Autores principales: 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, Piton, Amélie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Cognitive and Behavioural Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215287/
https://www.ncbi.nlm.nih.gov/pubmed/25167861
http://dx.doi.org/10.1136/jmedgenet-2014-102554

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215287/
https://www.ncbi.nlm.nih.gov/pubmed/25167861
http://dx.doi.org/10.1136/jmedgenet-2014-102554

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