Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Claire RedinBénédicte GérardJulia LauerYvan HerengerJean MullerAngélique QuartierAlice Masurel-PauletMarjolaine WillemsGaétan LescaSalima El-ChehadehStéphanie Le GrasSerge VicaireMuriel PhilippsMichaël DumasVéronique GeoffroyClaire FegerNicolas HaumesserYves AlembikMagalie BarthDominique BonneauEstelle ColinHélène DollfusBérénice DorayMarie-Ange DelrueValérie Drouin-GarraudElisabeth FloriMélanie FradinChristine FrancannetAlice GoldenbergSerge LumbrosoMichèle Mathieu-DramardDominique Martin-CoignardDidier LacombeGilles MorinAnne PolgeSylvie SuknoChristel Thauvin-RobinetJulien ThevenonMartine Doco-FenzyDavid GenevievePierre SardaPatrick EderyBertrand IsidorBernard JostLaurence Olivier-FaivreJean-Louis MandelAmélie PitonPublished in: Journal of medical genetics (2014)
With a diagnostic yield of 25% targeted sequencing appears relevant as a first intention test for the diagnosis of ID, but importantly will also contribute to a better understanding regarding the specific contribution of the many genes implicated in ID and autism.