Publication Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
Publication Relative contributions of adiposity in childhood and adulthood to vascular health of young adults
Publication The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study.
Publication The role of oxytocin receptor gene (OXTR) DNA methylation (DNAm) in human social and emotional functioning: a systematic narrative review.