Jennifer Bain

Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome

The paper identifies mitochondrial dysfunction and cyclin C mislocalization as consistent features of MED13L syndrome, linking them to clinical severity and suggesting potential biomarkers.

Clinical actionability of genetic findings in cerebral palsy

The paper evaluates the clinical impact of genetic findings in cerebral palsy, finding 8% of cases have actionable genetic diagnoses with moderate-high clinical utility.

Genotypic and phenotypic analysis of 173 patients with extremely rare pathogenic mutations who applied for experimental antisense oligonucleotide treatment

The paper analyzes genotypic and phenotypic data from 173 patients with nano-rare mutations to explore genotype-phenotype relationships and the potential for antisense oligonucleotide therapy.

Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder

The paper reports clinical phenotypes and longitudinal adaptive function in KIF1A-associated neurological disorder and correlates them with computational predictions of genotype severity.