Joshua Reid

nf-cavalier: A Nextflow Pipeline for Rare Disease Variant Prioritization and Reporting

nf-cavalier automates variant annotation, filtering, and reporting for rare Mendelian diseases using customizable criteria and generates user-friendly outputs for clinical teams.

Epileptogenesis dynamics driven by peritumoral circuit rewiring in gangliogliomas

This study shows that gangliogliomas induce developmental changes in cortical networks, leading to seizure dynamics that shift from neonatal to adult stages, with age-specific therapeutic implications.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia

This study uses deep sequencing to identify genetic variants in focal cortical dysplasias, finding pathogenic variants in 71% of cases and highlighting the importance of somatic variants in FCDIIb.

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies

Genome sequencing improves diagnostic yield for developmental and epileptic encephalopathies by identifying structural and non-coding variants missed by exome or gene panel testing.

A complex duplication overlapping FBRSL1 implicated in a developmental and epileptic encephalopathy

The paper reports a novel complex structural variant at the FBRSL1 locus causing a dominant-negative mechanism, leading to a severe developmental and epileptic encephalopathy in a patient with additional congenital abnormalities.

Unveiling Peripheral Immune Dysfunction in Parkinson's Disease through Analysis of Blood-based Mitochondrial DNA Copy Number

This study investigates the association between blood mitochondrial DNA copy number and Parkinson's disease, finding that peripheral immune dysfunction, not mitochondrial dysfunction, underlies the observed associations.