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Page 1
PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.
Genes (Basel). 2022 Mar 17;13(3):527. doi: 10.3390/genes13030527.
Genes (Basel). 2022.
PMID: 35328080
Free PMC article.
Review.
Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders.
Muhammad T, Pastore SF, Good K, Ausió J, Vincent JB.
Muhammad T, et al. Among authors: pastore sf.
Psychiatr Genet. 2023 Dec 1;33(6):213-232. doi: 10.1097/YPG.0000000000000353. Epub 2023 Oct 16.
Psychiatr Genet. 2023.
PMID: 37851134
Review.
Item in Clipboard
Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence.
Pastore SF, Muhammad T, Stan C, Frankland PW, Hamel PA, Vincent JB.
Pastore SF, et al.
Sci Rep. 2023 Nov 21;13(1):20391. doi: 10.1038/s41598-023-46673-0.
Sci Rep. 2023.
PMID: 37990104
Free PMC article.
Item in Clipboard
Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14.
Pastore SF, Muhammad T, Harripaul R, Lau R, Khan MTM, Khan MI, Islam O, Kang C, Ayub M, Jelani M, Vincent JB.
Pastore SF, et al.
Sci Rep. 2021 Nov 30;11(1):23113. doi: 10.1038/s41598-021-02599-z.
Sci Rep. 2021.
PMID: 34848785
Free PMC article.
Item in Clipboard
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability.
Xie CTY, Pastore SF, Vincent JB, Frankland PW, Hamel PA.
Xie CTY, et al. Among authors: pastore sf.
Cells. 2024 Jan 21;13(2):199. doi: 10.3390/cells13020199.
Cells. 2024.
PMID: 38275824
Free PMC article.
Item in Clipboard
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
Ouyang Q, Kavanaugh BC, Joesch-Cohen L, Dubois B, Wu Q, Schmidt M, Baytas O, Pastore SF, Harripaul R, Mishra S, Hussain A, Kim KH, Holler-Managan YF, Ayub M, Mir A, Vincent JB, Liu JS, Morrow EM.
Ouyang Q, et al. Among authors: pastore sf.
Hum Genet. 2019 Oct;138(10):1183-1200. doi: 10.1007/s00439-019-02057-x. Epub 2019 Aug 30.
Hum Genet. 2019.
PMID: 31471722
Free PMC article.
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