Publication A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome.
Publication Prenatal ß-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice.
Publication Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers.
Publication Comparing indicators of health and development of singleton young adults conceived with and without assisted reproductive technology.
Publication Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
Publication Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood.
