Publication A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.
Publication Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
Publication Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.