A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

  title={A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement},
  author={M. K. Durga Prasad and V{\'e}ronique de Geoffroy and Serge Vicaire and Bernard Jost and Michael Dumas and St{\'e}phanie Le Gras and Marzena Switala and Barbara Gasse and Virginie Laugel-Haushalter and Marie Paschaki and Bruno P. Leheup and Dominique Droz and Amelie Dalstein and Adeline Loing and Bruno Grollemund and M Muller-Bolla and S{\'e}r{\'e}na Lopez-Cazaux and Maryline Minoux and Sophie Jung and Fr{\'e}d{\'e}ric Obry and Vincent Vogt and Jean-Luc Davideau and Tiphaine Davit-B{\'e}al and Anne-Sophie Kaiser and Ute Moog and B{\'e}atrice Richard and Jean-Jacques Morrier and J P Duprez and Sylvie Odent and Isabelle Bailleul-Forestier and Monique Marie Rousset and Laure Merametdijan and Annick Toutain and Clara Joseph and F. Giuliano and Jean-Christophe Dahlet and Aymeric Courval and Mustapha El Alloussi and Samir Laouina and Sylvie Soskin and Nathalie Guffon and Anne Dieux and B. J. Doray and Stephanie Feierabend and Emmanuelle Ginglinger and Benjamin Fournier and Muriel de la Dure Molla and Yves Alembik and Corinne Tardieu and François Clauss and Ariane Berdal and Corinne Stoetzel and Marie C{\'e}cile Mani{\`e}re and H{\'e}l{\`e}ne J Dollfus and Agn{\`e}s Bloch-Zupan},
  booktitle={Journal of medical genetics},
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 in this group of disorders. METHODS We designed an NGS gene panel that targets… CONTINUE READING
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