Mark T. Ross

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.

The paper identifies a rare non-coding enhancer variant in SCN5A associated with Brugada syndrome in Thailand, showing it disrupts a transcription factor binding site and reduces sodium current.

The paper introduces a software tool to detect DUX4 rearrangements from whole-genome sequencing data, showing it can identify known and previously unidentified cases in a cohort of paediatric ALL patients.

The paper uses clinical-grade whole genome sequencing and 3' transcriptome analysis to identify targetable genomic alterations in colorectal cancer patients.