Area of research
Genetics · Neurology
Research interest
Research interests include Exome sequencing, Sanger sequencing, Phenotype, Biology, Deep sequencing, and Arthrogryposis.
Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
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