Publication A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Publication No obvious impact of caesarean delivery on childhood allergic outcomes: findings from Australian cohorts.
Publication Persistence of pneumococcal antibodies after primary immunisation with a polysaccharide-protein conjugate vaccine.
Publication Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.