Publication Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Publication Developing the Parent Engagement Resource: a tool for enhancing parent-professional relationships and identifying psychosocial issues in families
Publication Talking about disability in prenatal genetic counseling: a report of two interactive workshops.
Publication Commentary: how individual and profession-level factors influence discussion of disability in prenatal genetic counseling.
Publication Complications of Extra-Anatomic Aortic Bypass for Complex Coarctation and Aortic Arch Hypoplasia.
Publication Pollen exposure in pregnancy and infancy and risk of asthma hospitalisation - a register based cohort study
Publication The Roles of Genetic and Environmental Factors on Risk of Cervical Cancer: A Review of Classical Twin Studies
Publication Outcomes of the Arterial Switch Operation for Transposition of the Great Arteries: 25 Years of Experience
