David Hunt

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.

The paper compares a panel-agnostic variant filtering approach (HiPPo) with a gene panel-based strategy in exome and genome data from NHS patients, finding HiPPo identifies more diagnostic variants with fewer assessments.

The paper compares white matter microstructure changes in glaucoma and monocular blindness, finding distinct patterns outside the visual system.