I feel honored to search for cures that improve the lives of children.
Where I see patients (1)
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
Journal of human genetics
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Journal of medical genetics
Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys.
Feeling at home