Louise C. Wilson

RAPID uses targeted long-read RNA sequencing to resolve splice variants in rare disease cases, providing functional evidence for diagnosis and variant interpretation.

This study shows reduced PDE4D expression and activity in ACRDYS2 patient fibroblasts, leading to altered cAMP/PKA signaling and compensatory changes in PDE4B.

The paper creates a genome-wide map of homozygous deletions in 125,730 individuals, identifying novel rare disease genes and variants.

The paper presents a framework for prioritizing targets and patients for antisense oligonucleotide therapies in rare diseases, focusing on equitable and systematic decision-making.

This study uses whole genome sequencing to identify causative variants in mutation-negative Cornelia de Lange Syndrome patients, finding novel genes and regulatory regions involved.