James J. Dowling

This study identifies unique myofiber populations in XLMTM using transcriptomics and shows they respond to therapeutic interventions across species.

The paper describes a structured initiative to assess patient eligibility for genetic medicines, showing high uptake and feasibility of a multidisciplinary approach.

The paper estimates the proportion of genetic diagnoses in a pediatric cohort that are amenable to antisense oligonucleotide therapy, finding 4.9% eligible or likely eligible.

This study evaluates how blood transcriptome profiling adds value to genome sequencing in diagnosing rare genetic disorders in a pediatric cohort.

The paper identifies ABI2 missense variants linked to neurodevelopmental disorders with intellectual disability, epilepsy, and brain malformations through exome sequencing.

The paper creates a zebrafish model of CMT4B3 that mirrors human disease features, providing a pre-clinical tool for research and therapy development.

The paper assesses the impact of rare canonical splice site variants on splicing using functional and in silico methods, finding that 24% of variants do not cause loss-of-function.

The paper identifies heterozygous missense variants in ACTC1 as the cause of distal arthrogryposis with congenital heart defects in five families.

The paper conducts a longitudinal study of Mtm1 knockout mice to understand the natural history of X-linked myotubular myopathy, identifying molecular and structural changes preceding and coinciding with disease phenotypes.

The paper creates a zebrafish model of SPEG-related centronuclear myopathy that replicates human disease features and identifies shared pathomechanisms across CNM subtypes.

This paper shows that the ATP7B variant c.1934T>G causes exon 6 skipping, leading to loss of function and confirming its pathogenicity in Wilson Disease.

This study identifies drug modifiers for RYR1-related myopathy using a multi-species pipeline, finding p38 inhibition as a potential therapeutic strategy.

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.