Area of research
Genetics · Cognitive Neuroscience
Research interest
Research focused on Angelman syndrome and FMR1, with related work in Fragile X syndrome, Fragile x, Toddler. Notable publications include 'Associated features in females with an FMR1 premutation', 'Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation', and 'A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome'.
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)
Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome
Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III
Associated features in females with an FMR1 premutation