John A. Loughlin

This study investigates the functional effects of the OA-associated SNP rs11780978 on PLEC methylation and expression across multiple tissues, revealing tissue-specific impacts.

The paper functionally tests osteoarthritis-associated variants to identify regulatory activity, finding six SNPs with differential effects, including rs4730222 increasing HBP1 isoform expression.

This paper conducts a genome-wide association study on developmental dysplasia of the hip using national clinical audit data, identifying genetic loci associated with the condition and demonstrating a scalable recruitment strategy.