{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["7(8)"],"submitter":["Bitar T"],"funding":["Higher Center for Research - Holy Spirit University of Kaslik","Conseil National de la Recherche Scientifique au Liban"],"pubmed_abstract":["<h4>Background</h4>There is a strong evidence for genetic factors as the main causes of Autism Spectrum Disorders (ASD). To date, hundreds of genes have been identified either by copy number variations (CNVs) and/or single nucleotide variations. However, despite all the findings, the genetics of these disorders have not been totally explored.<h4>Methods</h4>Thus, the aim of our work was to identify rare CNVs and genes present in these regions in ASD children, using a high-resolution comparative genomic hybridization technique and quantitative PCR (qPCR) approach.<h4>Results</h4>Our results have shown 60-70 chromosomal aberrations per patient. We have initially selected 66 CNVs that have been further assessed using qPCR. Finally, we have validated 22 CNVs including 11 deletions and 11 dupli"],"journal":["Molecular genetics & genomic medicine"],"pagination":["e786"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6687626"],"repository":["biostudies-literature"],"pubmed_title":["Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders."],"pmcid":["PMC6687626"],"pubmed_authors":["Marouillat S","Vonwill S","Hleihel W","Soufia M","Vourc'h P","Bitar T","Vuillaume ML","Andres CR","Laumonnier F"],"additional_accession":[]},"is_claimable":false,"name":"Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders.","description":"<h4>Background</h4>There is a strong evidence for genetic factors as the main causes of Autism Spectrum Disorders (ASD). To date, hundreds of genes have been identified either by copy number variations (CNVs) and/or single nucleotide variations. However, despite all the findings, the genetics of these disorders have not been totally explored.<h4>Methods</h4>Thus, the aim of our work was to identify rare CNVs and genes present in these regions in ASD children, using a high-resolution comparative genomic hybridization technique and quantitative PCR (qPCR) approach.<h4>Results</h4>Our results have shown 60-70 chromosomal aberrations per patient. We have initially selected 66 CNVs that have been further assessed using qPCR. Finally, we have validated 22 CNVs including 11 deletions and 11 dupli","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Aug","modification":"2026-05-07T18:24:47.177Z","creation":"2026-04-07T23:12:45.904Z"},"accession":"S-EPMC6687626","cross_references":{"pubmed":["31254375"],"doi":["10.1002/mgg3.786"]}}