Publication An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.
Publication Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Publication Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population.
Publication A simple and efficient toolset for analysing mitochondrial trafficking in neuronal cells.
Publication Is the Knee the Key to Long-Term Gait Function in Cerebral Palsy?: Commentary on an article by Elizabeth R. Boyer, PhD, et al.: "Long-Term Outcomes of Distal Femoral Extension Osteotomy and Patellar Tendon Advancement in Individuals with Cerebral Palsy".
Publication Prenatal and preimplantation genetic diagnosis for single gene disorders: A population-based study from 1977 to 2016.
Publication Incomplete penetrance and variable expressivity of congenital disease: what’s luck got to do with it?
Publication A systematic review and meta-analysis of the prognosis of language outcomes for individuals with autism spectrum disorder
