Ana Isabel Silva

Early resource scarcity drives persistent transcriptional changes and vascular remodeling in the female prefrontal cortex

This study identifies female-specific vascular transcriptional changes and structural remodeling in the adult mPFC following early resource scarcity using snRNAseq and 3D vascular reconstruction.

Using rare genetic mutations to revisit structural brain asymmetry

The paper investigates how rare genetic mutations affect brain asymmetry by analyzing CNVs in a cohort of individuals and linking genetic alterations to brain structure and function.

Subcortical brain alterations in carriers of genomic copy number variants

This study examines subcortical brain alterations in CNV carriers across multiple neuropsychiatric disorders, finding shared and distinct patterns of structural changes.

Rare CNVs and phenome-wide profiling: a tale of brain-structural divergence and phenotypical convergence

The paper investigates how eight rare CNVs affect brain structure and phenotypes across 534 carriers, finding structural divergence and phenotypic convergence despite different genetic origins.

Converging pathways found in copy number variation syndromes with high schizophrenia risk

This study identifies common molecular pathways associated with schizophrenia risk in copy number variation syndromes by analyzing gene interactions and pathways from multiple databases.

Atlas of functional connectivity relationships across rare and common genetic variants, traits, and psychiatric conditions

The paper examines how rare and common genomic variants affect brain functional connectivity, revealing how polygenicity and pleiotropy influence psychiatric conditions and brain networks.

The general impact of haploinsufficiency on brain connectivity underlies the pleiotropic effect of neuropsychiatric CNVs

Neuropsychiatric CNVs reorganize brain connectivity along shared patterns linked to cognitive traits and disorder severity.

Analysis of diffusion tensor imaging data from UK Biobank confirms dosage effect of 15q11.2 copy-number variation on white matter and shows association with cognition

The paper analyzes diffusion tensor imaging data from UK Biobank to show that 15q11.2 copy-number variation affects white matter and is associated with cognitive performance.

Neuropsychiatric copy number variants exert shared effects on human brain structure

The paper examines the effects of neuropsychiatric CNVs on brain structure using neuroimaging data and identifies shared anatomical patterns across multiple CNVs.

Cyfip1 haploinsufficiency is associated with white matter changes, myelin thinning, reduction of mature oligodendrocytes and behavioural inflexibility

This study uses a rat model to show that Cyfip1 haploinsufficiency causes white matter changes, myelin thinning, reduced mature oligodendrocytes, and behavioural inflexibility.