Journal Article
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
François Lecoquierre; Olivier Quenez; Steeve Fourneaux; Sophie Coutant; Myriam Vezain; Marion Rolain; Nathalie Drouot; Anne Boland; Robert Olaso; Vincent Meyer; Jean-François Deleuze; Dana Dabbagh; Isabelle Gilles; Claire Gayet; Pascale Saugier-Veber; Alice Goldenberg; Anne-Marie Guerrot; Gaël Nicolas
Human Genetics · Vol. 142, Issue 6 · pp. 773-783 · 2023