Associated Papers
The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders.
Ung DC et al.
Neuroscience and Biobehavioral Reviews, 2025
Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.
Aghamir SMK et al.
Genes, 2023
37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV___10.xlsx › _10
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
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Carter MT et al.
Clinical Genetics, 2011
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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