{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:32:54Z","timestamp":1760059974031,"version":"build-2065373602"},"reference-count":61,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T00:00:00Z","timestamp":1753142400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ag\u00e8ncia de Gesti\u00f3 d\u2019Ajuts Universitaris i de Recerca (AGAUR) of the Generalitat de Catalunya","award":["2021DI056"],"award-info":[{"award-number":["2021DI056"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Brain morphological abnormalities are common in patients with neurodevelopmental disorders (NDDs) and other neuropsychiatric disorders, often reflecting abnormal brain development and function. Genetic studies have found common genetic factors in NDDs and other neuropsychiatric disorders, although the etiology of brain structural changes in these disorders remains poorly understood. In this study, we analyzed magnetic resonance imaging (MRI) and genetic data from more than 30K individuals from the UK Biobank to evaluate whether NDD-risk copy number variants (CNVs) are also associated with neuroanatomical changes in both patients and neurotypical individuals. We found that the size differences in brain regions such as corpus callosum and cerebellum were associated with the deletions of specific areas of the human genome, and that specific neuroanatomical changes confer a risk of neuropsychiatric disorders. Furthermore, we observed that gene sets located in these genomic regions were enriched for pathways crucial for brain development and for phenotypes commonly observed in patients with NDDs. These findings highlight the link between CNVs, brain structure abnormalities, and the shared pathophysiology of NDDs and other neuropsychiatric disorders, providing new insights into the underlying mechanisms of these disorders and the identification of potential biomarkers for better diagnosis.<\/jats:p>","DOI":"10.3390\/ijms26157062","type":"journal-article","created":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T15:00:42Z","timestamp":1753196442000},"page":"7062","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Assessment of Brain Morphological Abnormalities and Neurodevelopmental Risk Copy Number Variants in Individuals from the UK Biobank"],"prefix":"10.3390","volume":"26","author":[{"given":"Sara","family":"Azidane","sequence":"first","affiliation":[{"name":"STALICLA Discovery and Data Science Unit, World Trade Center, Moll de Barcelona, Edif Este, 08039 Barcelona, Spain"},{"name":"Institut de Biotecnologia i de Biomedicina, Universitat Aut\u00f2noma de Barcelona, Bellaterra, 08193 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Eizaguerri","sequence":"additional","affiliation":[{"name":"STALICLA Discovery and Data Science Unit, World Trade Center, Moll de Barcelona, Edif Este, 08039 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Gallego","sequence":"additional","affiliation":[{"name":"STALICLA Discovery and Data Science Unit, World Trade Center, Moll de Barcelona, Edif Este, 08039 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn","family":"Durham","sequence":"additional","affiliation":[{"name":"STALICLA Discovery and Data Science Unit, World Trade Center, Moll de Barcelona, Edif Este, 08039 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3466-6535","authenticated-orcid":false,"given":"Emre","family":"Guney","sequence":"additional","affiliation":[{"name":"STALICLA Discovery and Data Science Unit, World Trade Center, Moll de Barcelona, Edif Este, 08039 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1912-2027","authenticated-orcid":false,"given":"Laura","family":"P\u00e9rez-Cano","sequence":"additional","affiliation":[{"name":"STALICLA Discovery and Data Science Unit, World Trade Center, Moll de Barcelona, Edif Este, 08039 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Budday, S., Raybaud, C., and Kuhl, E. 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