Effects of rare recurrent copy number variations on brain structure

R Bøen - 2024 - duo.uio.no
Copy number variations (CNVs) are deletions or duplications of longer stretches of genetic
material. Individuals carrying specific rare recurrent CNVs show altered neurodevelopment …

Dose response of the 16p11. 2 distal copy number variant on intracranial volume and basal ganglia

IE Sønderby, Ó Gústafsson, NT Doan, DP Hibar… - Molecular …, 2020 - nature.com
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing
neurodevelopmental disorders. The 16p11. 2 distal CNV predisposes carriers to eg, autism …

[HTML][HTML] Neuroimaging findings in neurodevelopmental copy number variants: identifying molecular pathways to convergent phenotypes

AI Silva, F Ehrhart, MO Ulfarsson, H Stefansson… - Biological …, 2022 - Elsevier
Genomic copy number variants (CNVs) are associated with a high risk of
neurodevelopmental disorders. A growing body of genetic studies suggests that these high …

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

IE Sønderby, CRK Ching, SI Thomopoulos… - Human brain …, 2022 - Wiley Online Library
Abstract The Enhancing NeuroImaging Genetics through Meta‐Analysis copy number
variant (ENIGMA‐CNV) and 22q11. 2 Deletion Syndrome Working Groups (22q‐ENIGMA …

Association of copy number variation of the 15q11. 2 BP1-BP2 region with cortical and subcortical morphology and cognition

D Van Der Meer, IE Sønderby, T Kaufmann… - JAMA …, 2020 - jamanetwork.com
Importance Recurrent microdeletions and duplications in the genomic region 15q11. 2
between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental …

Dose response of the 16p11. 2 distal copy number variant on intracranial volume and basal ganglia

I Elken Sønderby, G Cavalleri, N Delanty… - 2021 - repository.rcsi.com
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing
neurodevelopmental disorders. The 16p11. 2 distal CNV predisposes carriers to eg, autism …

Effects of eight neuropsychiatric copy number variants on human brain structure

C Modenato, K Kumar, C Moreau… - Translational …, 2021 - nature.com
Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental
symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date …

The contribution of copy number variants to psychiatric symptoms and cognitive ability

J Mollon, L Almasy, S Jacquemont, DC Glahn - Molecular psychiatry, 2023 - nature.com
Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …

Copy number variation and neuropsychiatric problems in females and males in the general population

J Martin, K Tammimies, R Karlsson, Y Lu… - American Journal of …, 2019 - Wiley Online Library
Neurodevelopmental problems (NPs) are more common in males, whereas anxiety and
depression are more common in females. Rare copy number variants (CNVs) have been …

Somatic copy number variants in neuropsychiatric disorders

EA Maury, CA Walsh - Current opinion in genetics & development, 2021 - Elsevier
Copy number variants (CNVs) have been implicated in neuropsychiatric disorders, with rare-
inherited and de novo CNVs (dnCNVs) having large effects on disease liability. Recent …