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
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability.
Xie CTY et al.
Cells, 2024
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Montanaro FAM et al.
Frontiers in Psychiatry, 2023
PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.
Pastore SF et al.
Genes, 2022
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