Wen‐Hann Tan

This study tracks adaptive functioning in Angelman syndrome using Vineland-3, finding slower growth in deletion subtypes and parallel developmental trajectories across subtypes.

This paper develops meaningful score differences (MSDs) for the Bayley-4 and Vineland-3 in Angelman syndrome using a Delphi panel, finding that MSD thresholds vary with baseline functioning severity.

This study develops and pilots the Angelman Syndrome Video Assessment (ASVA) to evaluate functional skills in individuals with AS in their home environment, finding high video completion and caregiver support.

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

This study evaluates sleep disturbances in children with Rett, Angelman, and Prader-Willi syndromes compared to typically developing controls, identifying common sleep issues and their associations.

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.