{
  "abstract": "The American College of Medical Genetics and Genomics (ACMG) and other professional organisations recommend whole exome sequencing (WES) as a first-tier genetic test for paediatric patients with congenital anomalies, developmental delay and/or intellectual disability, which has contributed to rapidly increasing rates of genetic testing and diagnosis in this population. We present a case of Rett syndrome diagnosed in early childhood following an atypical presentation of the condition with no regression using WES. This diagnosis was facilitated by a multidisciplinary outpatient neurodevelopmental genetics programme. Non-genetics providers trained in consent for genetic testing allowed for ample access to a comprehensive genetics work-up. The subsequent diagnosis of Rett syndrome qualified this patient for additional resources, novel interventions and family support.",
  "authors": [
    {
      "affiliations": [
        "Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA"
      ],
      "name": "Casaundra Gutowski"
    },
    {
      "affiliations": [
        "Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA"
      ],
      "name": "Molly Lombard"
    },
    {
      "affiliations": [
        "Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA"
      ],
      "name": "Evangeline Kurtz-Nelson"
    },
    {
      "affiliations": [
        "Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA"
      ],
      "name": "Celanie Christensen"
    }
  ],
  "title": "Whole exome sequencing facilitates early neurodevelopmental diagnosis in an outpatient clinic",
  "uid": "e7ee3350-49f9-5301-903d-7eb38e68a652"
}