Now showing items 1-2 of 2

    • Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. 

      Bellet, Jane; Del Gaudio, Daniela; El-Dairi, Mays; Goldstein, David Benjamin; Hendon, Laura G; Horn, Sarah; Jasien, Joan M; ... (30 authors) (Genetics in medicine : official journal of the American College of Medical Genetics, 2018-04)
      PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with ...
    • Photoreceptors in a Mouse Model of Leigh Syndrome are Capable of Normal Light-Evoked Signaling. 

      Gospe, Sidney; Arshavsky, Vadim; Travis, Amanda M; Kolesnikov, Alexander V; Klingeborn, Mikael; Wang, Luyu; Kefalov, Vladimir J (The Journal of biological chemistry, 2019-06-27)
      Mitochondrial dysfunction is an important cause of heritable vision loss. Mutations affecting mitochondrial bioenergetics may lead to isolated vision loss or life-threatening systemic disease, depending on a mutation's severity. ...