Lyn Robyn Griffiths

This paper develops a calibrated functional assay to assess CACNA1A variants, showing it can accurately classify pathogenic and benign variants with high specificity and sensitivity.

This paper develops a calibrated electrophysiological framework to classify CACNA1G missense variants, identifying two variants as likely pathogenic and others as benign.

The paper performs whole exome sequencing on CSVD patients to identify novel gene associations and finds significant variants in ABCC6, MYH11, NOTCH1, and seven other genes.

This study integrates multi-OMIC data from 12 cohorts to identify exercise-specific molecular signatures and gene regulatory patterns in human skeletal muscle.

This study shows exercise training reduces epigenetic and transcriptomic aging in human skeletal muscle, while muscle disuse accelerates transcriptomic aging.

The paper was withdrawn due to lack of full author consent, so no findings are reported.

The paper integrates skeletal muscle methylome and transcriptome data across three cohorts to identify sex differences in DNA methylation and gene expression, revealing functional links between epigenetic and transcriptional sex biases.

The paper identifies age-related DNA methylation changes in human skeletal muscle through a meta-analysis and integrates these with transcriptomic and proteomic data, revealing enriched age-related gene expression patterns.

The paper identifies nine nuclear-encoded SNPs associated with exercise response in the Gene SMART cohort using whole-mitochondrial genome sequencing and composite trait analysis.

The paper develops a muscle-specific epigenetic clock using DNA methylation data from skeletal muscle samples, achieving higher accuracy than a pan-tissue clock.

This study shows common genetic variants significantly contribute to migraine family clustering, with higher burden in familial cases compared to population-based cases.

The paper develops a Bayesian model selection algorithm to identify cell-specific DNA methylation patterns, accounting for cell lineage and sex effects, and shows that many CpG markers are differentially methylated across multiple cell types.