Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Thierry VilbouxDaniel A DohertyIan A GlassMelissa A ParisiIan G PhelpsAndrew R CullinaneWadih ZeinWadih M ZeinTheo HellerAriane G SoldatosNeal L OdenDeniz YildirimliMeghana VemulapalliJames C Mullikinnull Nisc Comparative Sequencing ProgramMay Christine V MalicdanWilliam A GahlMeral Gunay-AygunPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)
In JS, WES significantly increases the yield for molecular diagnosis, which is essential for reproductive counseling and the option of preimplantation and prenatal diagnosis as well as medical management and prognostic counseling for the age-dependent and progressive organ-specific manifestations, including retinal, liver, and kidney disease.Genet Med advance online publication 26 January 2017.