Article
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Journal of medical genetics - 1 Feb 2016
Prasad Megana K, Geoffroy Véronique, Vicaire Serge, Jost Bernard, Dumas Michael, Le Gras Stéphanie, Switala Marzena, Gasse Barbara, Laugel-Haushalter Virginie, Paschaki Marie, Leheup Bruno, Droz Dominique, Dalstein Amelie, Loing Adeline, Grollemund Bruno, Muller-Bolla Michèle, Lopez-Cazaux Séréna, Minoux Maryline, Jung Sophie, Obry Frédéric, Vogt Vincent, Davideau Jean-Luc, Davit-Beal Tiphaine, Kaiser Anne-Sophie, Moog Ute, Richard Béatrice, Morrier Jean-Jacques, Duprez Jean-Pierre, Odent Sylvie, Bailleul-Forestier Isabelle, Rousset Monique Marie, Merametdijan Laure, Toutain Annick, Joseph Clara, Giuliano Fabienne, Dahlet Jean-Christophe, Courval Aymeric, El Alloussi Mustapha, Laouina Samir, Soskin Sylvie, Guffon Nathalie, Dieux Anne, Doray Bérénice, Feierabend Stephanie, Ginglinger Emmanuelle, Fournier Benjamin, de la Dure Molla Muriel, Alembik Yves, Tardieu Corinne, Clauss François, Berdal Ariane, Stoetzel Corinne, Manière Marie Cécile, Dollfus Hélène, Bloch-Zupan Agnès
Abstract excerpt
BACKGROUND: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated...
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