Publication Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Publication Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets.
Publication The effect of emerging nutraceutical interventions for clinical and biological outcomes in multiple sclerosis: A systematic review.
Publication Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
Publication Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activity.
Publication Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study.
Publication Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
Publication Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Publication Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.
