He is the founding head of the Neurogenetics Research Program located at the Medical School, the University of Adelaide. The broad research aim of his group is to further understanding of brain function through the identification and characterisation of genes with naturally occurring mutations in patients with intellectual disability, autism, some, primarily monogenic, forms of epilepsy and cerebral palsy. His team discovered or contributed to the discovery of more than 250 different disease genes (e.g. AFF2, ARX, PHF6, CDKL5, PCDH19, TBC1D24, GOSR2, UPF3B, HCFC1, IQSEC2, RNF113A, STAG2, USP9X, THOC2, GPKOW, RLIM or ZSWIM6). Many of these genes pointed to new and unexpected biological pathways essential for normal brain development and function (e.g. non-sense mediated mRNA decay, NMD or transcription mRNA export, TREX). The current focus of his research is in the functional interpretation of genetic variation, coding and non-coding, identified with next generation genomic technologies, using various cell and molecular biology tools, including patient cell (including stem cell) and mouse models.