Area of research
Clinical Biochemistry · Rheumatology
Research interest
Research interests include Metabolism and Genetic Disorders, Folate and B Vitamins Research, Neonatal Health and Biochemistry, and Mitochondrial Function and Pathology.
Association between borderline neonatal thyroid-stimulating hormone concentrations and educational and developmental outcomes: a population-based record-linkage study
Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era
Expanded newborn screening in New South Wales: missed cases
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
Enhanced interpretation of newborn screening results without analyte cutoff values