Associated Papers
Syngap1 and the development of murine neocortical progenitor cells.
Barão S et al.
Nature Communications, 2025
CRISPR-mediated transcriptional activation as a mutation-independent therapeutic strategy for SYNGAP1-related intellectual disability.
Sichlinger L et al.
Biorxiv : the Preprint Server for Biology, 2025
Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen database.
Scott MR et al.
Orphanet Journal of Rare Diseases, 2025
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Wiltrout K et al.
Epilepsia, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Mouse models of SYNGAP1-related intellectual disability.
Araki Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Mouse models of SYNGAP1 -related intellectual disability.
Araki Y et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder.
Brimble E et al.
Molecular Syndromology, 2019
Roadmap to advance therapeutics for SYNGAP1-related disorder: a patient organization perspective from SynGAP Research Fund.
Graglia JM et al.
Therapeutic Advances in Rare Disease, 0
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