Diogo F. T. Veiga

A multimodal single-cell atlas of the adolescent brain reveals gene regulatory networks linking development to disease risk

Cell type mapping of mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy using single-nucleus multiomics

This study uses single-nucleus multiomics to map cell types and molecular changes in MOGHE lesions, identifying disease-specific oligodendrocytes and heterotopic neurons with altered gene expression.

Alternative splicing of transposable elements in human breast cancer

The paper examines TE-driven alternative splicing in breast cancer using long-read RNA sequencing, identifying tumor-specific splicing events and TE-derived isoforms with potential therapeutic implications.

Multimodal single-cell profiling reveals neuronal vulnerability and pathological cell states in focal cortical dysplasia

This study uses multi-omics single-cell profiling to identify chromatin and transcriptomic changes in FCD type II, revealing altered cell states and neuronal vulnerability.

Identifying cellular markers of focal cortical dysplasia type II with cell-type deconvolution and single-cell signatures

This study uses cell-type deconvolution and single-cell signatures to analyze bulk RNA-seq data from FCD patients, revealing subtype-specific cellular changes, including astrogliosis in FCD IIb.

Long-read isoform sequencing reveals survival-associated splicing in breast cancer

The paper uses long-read RNA sequencing to identify novel isoforms in breast cancer, finding splicing events associated with patient survival.

The impact of biological sex on alternative splicing

The paper identifies sex-biased differential alternative splicing across multiple human tissues and links it to gene function and estrogen response.

Accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis

This paper introduces HBA-DEALS, a method that simultaneously identifies differential expression and splicing, showing genes can have differential expression, splicing, both, or neither.