16p11. 2 copy number variations and neurodevelopmental disorders
Copy number variations (CNVs) of the human 16p11. 2 genetic locus are associated with a
range of neurodevelopmental disorders, including autism spectrum disorder, intellectual …
range of neurodevelopmental disorders, including autism spectrum disorder, intellectual …
Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs
Abstract The Enhancing NeuroImaging Genetics through Meta‐Analysis copy number
variant (ENIGMA‐CNV) and 22q11. 2 Deletion Syndrome Working Groups (22q‐ENIGMA …
variant (ENIGMA‐CNV) and 22q11. 2 Deletion Syndrome Working Groups (22q‐ENIGMA …
[HTML][HTML] Chromosomal inversion polymorphisms shape human brain morphology
The impact of chromosomal inversions on human brain morphology remains underexplored.
We studied 35 common inversions classified from genotypes of 33,018 adults with European …
We studied 35 common inversions classified from genotypes of 33,018 adults with European …
[HTML][HTML] Lessons learned from neuroimaging studies of copy number variants: a systematic review
Pathogenic copy number variants (CNVs) and aneuploidies alter gene dosage and are
associated with neurodevelopmental psychiatric disorders such as autism spectrum disorder …
associated with neurodevelopmental psychiatric disorders such as autism spectrum disorder …
Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11. 2 deletion
Abstract Reciprocal Copy Number Variants (CNVs) at the 16p11. 2 locus confer high risk for
autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs) …
autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs) …
Structural and functional brain alterations revealed by neuroimaging in CNV carriers
Copy Number Variants (CNVs) are associated with elevated rates of neuropsychiatric
disorders. A 'genetics-first'approach, involving the CNV effects on the brain, irrespective of …
disorders. A 'genetics-first'approach, involving the CNV effects on the brain, irrespective of …
The pleiotropic spectrum of proximal 16p11. 2 CNVs
Recurrent genomic rearrangements at 16p11. 2 BP4-5 represent one of the most common
causes of genomic disorders. Originally associated with increased risk for autism spectrum …
causes of genomic disorders. Originally associated with increased risk for autism spectrum …
[HTML][HTML] The Phenotypic Spectrum of 16p11. 2 Recurrent Chromosomal Rearrangements
The human 16p11. 2 chromosomal region is rich in segmental duplications which mediate
the formation of recurrent CNVs. CNVs affecting the 16p11. 2 region are associated with an …
the formation of recurrent CNVs. CNVs affecting the 16p11. 2 region are associated with an …
Deviation From Normative Whole Brain and Deep Gray Matter Growth in Children With MOGAD, MS, and Monophasic Seronegative Demyelination
G Fadda, A Cardenas de la Parra, J O'Mahony… - Neurology, 2023 - AAN Enterprises
Background and Objectives Pediatric-acquired demyelination of the CNS associated with
antibodies directed against myelin oligodendrocyte glycoprotein (MOG; MOG antibody …
antibodies directed against myelin oligodendrocyte glycoprotein (MOG; MOG antibody …
Disrupted cognitive development following pediatric acquired demyelinating syndromes: a longitudinal study
E De Somma, J O'Mahony, RA Brown… - Child …, 2022 - Taylor & Francis
Long-term cognitive deficits have been observed in some children who experience an
acquired demyelinating syndrome (ADS). We examined changes in cognitive functioning …
acquired demyelinating syndrome (ADS). We examined changes in cognitive functioning …