{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:01:48Z","timestamp":1790874108597,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Clinical manifestations of 1p36.33 duplications vary depending on duplication size. This region is prone to copy number variants associated with diverse phenotypes. We report a novel 1p36.33p36.32 duplication in a patient with developmental delay and facial dysmorphism. The causative duplication was detected by whole\u2010genome Oligo\u2010array CGH and confirmed by real\u2010time PCR. Integrative bioinformatic analyses\u2014including network analysis, phenotype\u2010driven gene prioritisation, and dosage sensitivity assessment\u2014were performed to explore the molecular basis of the phenotype; we used integrative bioinformatic analyses, including network analysis, phenotype\u2010driven gene prioritisation, and dosage sensitivity assessment. Assessment of a child with tonic seizures, developmental delay, and dysmorphic facial traits revealed a 2.3\u2009MB gain in the 1p36.33p36.32 region (nucleotide 898,721 to 3,153,945) through array CGH. Bioinformatic analyses identified several candidate genes, including\n                    <jats:italic>GABRD<\/jats:italic>\n                    ,\n                    <jats:italic>DVL1<\/jats:italic>\n                    , and\n                    <jats:italic>GNB1<\/jats:italic>\n                    , which are implicated in neurodevelopmental and congenital disorders. Pathway enrichment analysis revealed significant involvement of the \u20181P36 Copy Number Variation Syndrome\u2019 pathway. This case expands the phenotypic spectrum of 1p36 duplications and highlights the importance of integrating clinical, genomic, and bioinformatic data for accurate interpretation.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.71079","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T14:16:28Z","timestamp":1772979388000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant"],"prefix":"10.1111","volume":"30","author":[{"given":"Atieh","family":"Eslahi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Mashhad University of Medical Sciences  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mir Salar","family":"Kahaei","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Mashhad University of Medical Sciences  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0751-7866","authenticated-orcid":false,"given":"Bita Barazandeh","family":"Shirvan","sequence":"additional","affiliation":[{"name":"Rare Pediatric Neurological Diseases Research Center Mashhad University of Medical Sciences  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masoome","family":"Alerasool","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Mashhad University of Medical Sciences  Mashhad Iran"},{"name":"Genetic Foundation of Khorasan Razavi  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sepideh","family":"Tabarestani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dr Sheikh Hospital, Mashhad University of Medical Sciences  Mashhad 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