Publication 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Publication 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.
Publication A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy.
Publication A Neuropsychological Profile for Agenesis of the Corpus Callosum? Cognitive, Academic, Executive, Social, and Behavioral Functioning in School-Age Children.
Publication A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders.
Publication A systematic evaluation of intraoperative white matter tract shift in pediatric epilepsy surgery using high-field MRI and probabilistic high angular resolution diffusion imaging tractography.
