Raquel Vaz

This study evaluates HiFi Revio long-read sequencing for detecting chromosomal rearrangements in rare diseases, showing high accuracy for breakpoint junctions and derivative chromosome structures.

The paper identifies rare NOX4 variants in psoriatic arthritis mutilans patients that increase ROS levels, linking them to disease pathogenesis and suggesting therapeutic targets.

This study shows that heterozygous loss of ctnnd2b in zebrafish leads to disorganised and imbalanced neuronal subtypes in the forebrain.