Collaborator: Gillette Children’s Specialty Healthcare

• Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

• Clinical Diagnostic Exome Sequencing in Dystonia: Genetic Testing Challenges for Complex Conditions

  Abstract Patients with dystonia are particularly appropriate for diagnostic exome sequencing (DES), due to the complex, diverse features and genetic heterogeneity. Personal and family history data were collected from test requisition forms and medical records from 189 patients with reported dystonia and available family members received for clinical DES. Of them, 20.2% patients had a…