Associated Papers
The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders.
Ung DC et al.
Neuroscience and Biobehavioral Reviews, 2025
Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking.
Pastore SF et al.
Biological Psychiatry Global Open Science, 2025
PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.
Pastore SF et al.
Genes, 2022
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Halewa J et al.
Human Mutation, 2021
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
Torrico B et al.
European Journal of Human Genetics : Ejhg, 2015
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Piton A et al.
American Journal of Human Genetics, 2013
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Noor A et al.
Science Translational Medicine, 2010
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