John Burn

This study shows that SLC5A6 deficiency causes dilated cardiomyopathy in mice, which can be prevented by vitamin supplementation, mirroring clinical outcomes in patients.

The paper investigates how sequencing depth and marker number affect detecting mismatch repair deficiency in colorectal tumors using artificial neural networks.

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.

The paper introduces a panel of short mononucleotide repeats for MSI testing, showing high concordance with traditional methods and potential for scalable, cost-effective tumor classification.

This paper develops a sequencing-based assay using molecular inversion probes to detect microsatellite instability and BRAF V600E mutations in colorectal cancer, enabling high-throughput diagnostics and Lynch syndrome screening.

The paper integrates functional assay data with sequence analysis to improve BRCA1 variant classification, adding 146 variants to the Ex-UV database.