Genomic copy number variation in disorders of cognitive development

EM Morrow - Journal of the American Academy of Child & …, 2010 - Elsevier
… CNVs currently associated with intellectual disability (ID), … discoveries in genomic copy
number variation are proposed … , emerging principles of copy number variation in the human …

Copy number variations and cognitive phenotypes in unselected populations

K Männik, R Mägi, A Macé, B Cole, AL Guyatt… - Jama, 2015 - jamanetwork.com
… The educational attainment decreases with copy number variation (CNV) size. See Table 2
for statistically … Origins and functional impact of copy number variation in the human genome. …

[HTML][HTML] Genetic copy number variation and general cognitive ability

AK MacLeod, G Davies, A Payton, A Tenesa, SE Harris… - PloS one, 2012 - journals.plos.org
… suggest that copy number variation in the SHANK3,region where copy number variation has
… and schizophrenia, is associated with normal variation in fluid intelligence. However, our …

Distribution of disease-associated copy number variants across distinct disorders of cognitive development

MF Pescosolido, ED Gamsiz, S Nagpal… - Journal of the American …, 2013 - Elsevier
copy number variation Genome-wide association studies (GWAS) have identified a large
number of recurrent copy number variants … by several disorders of cognitive development.1, 2, 3…

Cognitive phenotypes and genomic copy number variations

JR Lupski - Jama, 2015 - jamanetwork.com
… (>250 kilobase [kb] pairs) structural variants in the genome, specifically deletion and … copy
number variations (CNVs), were associated with cognitive phenotypes including intellectual

[HTML][HTML] Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

JH Thygesen, A Presman, J Harju-Seppänen… - Molecular …, 2021 - nature.com
… Part of the unexplained heritability of intelligence could be attributable to copy number
variants. Many CNVs affect genes involved in neurodevelopment [15, 34, 35], providing a …

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
… [55] copy number variation further highlight the high rate of these CNVs in … These
findings of dosage-dependent effects of 1q21.1, 7q11.23, 16p11.2 copy number variation on …

Copy number variations in neurodevelopmental disorders

HM Grayton, C Fernandes, D Rujescu… - Progress in …, 2012 - Elsevier
… signs seen in the course of brain development – from conception to early adulthood. There
is a large overlap of symptoms ranging from cognitive impairment, behavioural abnormalities, …

Copy number variant risk scores associated with cognition, psychopathology, and brain structure in youths in the Philadelphia neurodevelopmental cohort

A Alexander-Bloch, G Huguet, LM Schultz… - JAMA …, 2022 - jamanetwork.com
… Contribution of copy number variants to schizophrenia from a genome-wide study … copy
number variants (CNVs) are major contributors to liability for complex diseases, including mental

No association between general cognitive ability and rare copy number variation

AF McRae, MJ Wright, NK Hansell, GW Montgomery… - Behavior genetics, 2013 - Springer
… A priori we might expect copy-number variation to have the largest effect in the lower tail
of IQ measurements. This might be masked in an analysis using the entire distribution of IQ …