1. Montanaro, Federica Alice Maria, Mandarino, Alessandra, Alesi, Viola, Vicari, Stefano, Alfieri, Paolo. 2024. PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports. In Frontiers in psychiatry, 14, 1327802. doi:10.3389/fpsyt.2023.1327802. https://pubmed.ncbi.nlm.nih.gov/38288059/
2. Pastore, Stephen F, Muhammad, Tahir, Stan, Cassandra, Hamel, Paul A, Vincent, John B. 2023. Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence. In Scientific reports, 13, 20391. doi:10.1038/s41598-023-46673-0. https://pubmed.ncbi.nlm.nih.gov/37990104/
3. Pastore, Stephen F, Ko, Sangyoon Y, Frankland, Paul W, Hamel, Paul A, Vincent, John B. 2022. PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene. In Genes, 13, . doi:10.3390/genes13030527. https://pubmed.ncbi.nlm.nih.gov/35328080/
4. Ji, Qi, Li, Si-Jia, Zhao, Jun-Bo, Tan, Jing-Yao, Zhu, Zhi-Ru. 2023. Genetic and neural mechanisms of sleep disorders in children with autism spectrum disorder: a review. In Frontiers in psychiatry, 14, 1079683. doi:10.3389/fpsyt.2023.1079683. https://pubmed.ncbi.nlm.nih.gov/37200906/
5. Xie, Connie T Y, Pastore, Stephen F, Vincent, John B, Frankland, Paul W, Hamel, Paul A. 2024. Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability. In Cells, 13, . doi:10.3390/cells13020199. https://pubmed.ncbi.nlm.nih.gov/38275824/
6. Rochtus, Anne, Olson, Heather E, Smith, Lacey, Rosen Sheidley, Beth, Poduri, Annapurna. 2020. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. In Epilepsia, 61, 249-258. doi:10.1111/epi.16427. https://pubmed.ncbi.nlm.nih.gov/31957018/