Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Kimberly SplinterDavid R AdamsCarlos A BacinoHugo J BellenJonathan A BernsteinAlys M Cheatle-JarvelaChristine M EngCecilia EstevesWilliam A GahlRizwan HamidHoward J JacobBijal KikaniDavid M KoellerIsaac S KohaneBrendan H LeeJoseph LoscalzoXi LuoAlexa T McCrayThomas O MetzJohn J MulvihillStanley F NelsonChristina G S PalmerJohn A PhillipsLeslie PickJohn H PostlethwaitChloe ReuterVandana ShashiDavid A SweetserCynthia J TifftNicole M WalleyMichael F WanglerMonte WesterfieldMatthew T WheelerAnastasia L WiseElizabeth A WortheyShinya YamamotoEuan A Ashleynull nullPublished in: The New England journal of medicine (2018)
The UDN established a diagnosis in 132 of the 382 patients who had a complete evaluation, yielding a rate of diagnosis of 35%. (Funded by the National Institutes of Health Common Fund.).