Mariana Moysés‐Oliveira

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling

The paper investigates how POGZ loss-of-function affects transcription factor binding and gene expression in neurons, revealing shared molecular changes with other NDD-related genes.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

Aberrant recursive splicing in a human disease locus

The paper investigates the functional role of recursive splicing in CADM2, showing that its deletion leads to altered gene expression and behavioral changes in neurodevelopmental disorders.

Convergent coexpression of autism associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies

The paper identifies novel autism risk genes by analyzing convergent coexpression patterns in brain samples, showing these genes may not be detected by sequencing studies.

The impact of 22q11.2 copy number variants on human traits in the general population.

This study investigates the phenotypic effects of 22q11.2 copy number variants in the general population using UK Biobank data, finding associations with BMI, platelet volume, and other traits.

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

The paper investigates the effects of MEF2C mutations and chromatin structural variants on transcriptional and functional outcomes in neuronal models, revealing differential impacts based on mutation type and chromatin topology.