Andrew G. L. Douglas

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

The paper evaluates splicing prediction methods on 56 clinically validated variants, finding some methods match or exceed SpliceAI's performance but highlighting ongoing challenges in accuracy.

This study uses RNA-sequencing to identify novel diagnoses in Mendelian disorders by detecting aberrant splicing and expression abnormalities, particularly in patients without candidate sequence variants.

This study analyzes splicing variants in whole-genome sequencing data to identify new diagnoses in rare diseases.

This study corrects a C9orf72 hexanucleotide expansion in iPSC-derived motor neurons using CRISPR/Cas9 and HDR, restoring normal gene expression and eliminating pathological phenotypes.