Maria Carmo‐Fonseca

Alternative splicing dynamics during human cardiac development in vivo and in vitro

This study maps alternative splicing dynamics during human cardiac development and identifies splicing markers in iPSC-derived cardiomyocytes, revealing both similarities and differences with native cardiac splicing patterns.

Computational prediction of human deep intronic variation

This study evaluates computational tools for predicting the functional impact of deep intronic variants, finding significant differences in performance and highlighting the trade-off between interpretability and predictive power.

Transcription and splicing dynamics during early Drosophila development

This study uses NET-seq to analyze co-transcriptional splicing dynamics in Drosophila embryos, revealing differences in splicing timing and intron definition across developmental stages.

POINT Technology Illuminates The Processing Of Polymerase-Associated Intact Nascent Transcripts

The paper introduces POINT technology to study co-transcriptional RNA processing, revealing insights into splicing kinetics, Xrn2 exonuclease specificity, and transcript termination mechanisms.