Area of research
Experimental and Cognitive Psychology · Safety Research
Research interest
Research interests include Neurodevelopmental disorder, Hypotonia, Autism spectrum disorder, Intellectual disability, Cohort, and Haploinsufficiency.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity
Schaaf‐Yang syndrome overview: Report of 78 individuals
<i>Magel2</i> Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity