Publication Alcohol and parenthood: An integrative analysis of the effects of transition to parenthood in three Australasian cohorts.
Publication An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.
Publication Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.
Publication Assessing the quality of health research from an Indigenous perspective: the Aboriginal and Torres Strait Islander quality appraisal tool.
Publication Bazam: a rapid method for read extraction and realignment of high-throughput sequencing data.
Publication Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Publication Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Publication Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
