{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["28(12)"],"submitter":["van der Werf IM"],"pubmed_abstract":["Upon the discovery of numerous genes involved in the pathogenesis of neurodevelopmental disorders, several studies showed that a significant proportion of these genes converge on common pathways and protein networks. Here, we used a reversed approach, by screening the AnkyrinG protein-protein interaction network for genetic variation in a large cohort of 1009 cases with neurodevelopmental disorders. We identified a significant enrichment of de novo potentially disease-causing variants in this network, confirming that this protein network plays an important role in the emergence of several neurodevelopmental disorders."],"journal":["European journal of human genetics : EJHG"],"pagination":["1726-1733"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7785003"],"repository":["biostudies-literature"],"pubmed_title":["Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders."],"pmcid":["PMC7785003"],"pubmed_authors":["Vissers LELM","de Vries BBA","de Vries PF","Jansen S","Hoischen A","Gilissen C","Kooy RF","Vandeweyer G","Gerstmans A","van de Vorst M","van der Werf IM","Van Dijck A"],"additional_accession":[]},"is_claimable":false,"name":"Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.","description":"Upon the discovery of numerous genes involved in the pathogenesis of neurodevelopmental disorders, several studies showed that a significant proportion of these genes converge on common pathways and protein networks. Here, we used a reversed approach, by screening the AnkyrinG protein-protein interaction network for genetic variation in a large cohort of 1009 cases with neurodevelopmental disorders. We identified a significant enrichment of de novo potentially disease-causing variants in this network, confirming that this protein network plays an important role in the emergence of several neurodevelopmental disorders.","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Dec","modification":"2026-05-09T01:33:06.186Z","creation":"2022-02-11T13:17:58.179Z"},"accession":"S-EPMC7785003","cross_references":{"pubmed":["32651551"],"doi":["10.1038/s41431-020-0682-0"]}}