Area of research
Clinical Biochemistry · Genetics
Research interest
Research interests include Metabolism and Genetic Disorders, Genomics and Rare Diseases, Mitochondrial Function and Pathology, and Folate and B Vitamins Research.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution