Jacob E. Munro

Edi-Set-Flow detects differential A-to-I RNA editing in bulk RNA-seq data across tissues and conditions, revealing distinct editing signatures and known protein-recoding events in brain samples.

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

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

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.

This study identifies a novel intronic GAA repeat expansion in FGF14 as a cause of autosomal dominant adult-onset ataxia, with (GAA)>335 being fully penetrant and (GAA)>250 likely pathogenic.

This study genotypes STRs in Plasmodium species using HipSTR and compares genetic diversity and population structure to SNP data, revealing higher resolution and unique signals.

The paper identifies RNA editing sites in single cortical neurons and links locus 15q11 with psychiatric illness through differential editing in cell types.

This study identifies maternal iron deficiency as an environmental teratogen causing congenital heart disease in mice, with potential implications for human health.