Research interests include Genomics and Rare Diseases, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities, and Hereditary Neurological Disorders.
<i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine
Annals of Clinical and Translational Neurology2014cited by 295position: middledoi
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
Molecular Genetics and Metabolism2014cited by 65position: middledoi