Publication A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.
Publication A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
Publication A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy.
Publication Associations between expressive and receptive language and internalizing and externalizing behaviours in a community-based prospective study of slow-to-talk toddlers.
Publication Australasian Guideline (2nd Edition): an Annex to the CLSI and UK Guidelines for the Performance of the Sweat Test for the Diagnosis of Cystic Fibrosis.
Publication Cannabis use by women during pregnancy does not influence infant DNA methylation of the dopamine receptor DRD4.
Publication Classroom Promotion of Oral Language (CPOL): protocol for a cluster randomised controlled trial of a school-based intervention to improve children's literacy outcomes at grade 3, oral language and mental health.
