Boris Rebolledo‐Jaramillo

This study evaluates factors influencing diagnostic yield of exome sequencing in Chilean patients with rare diseases, finding that NDD and MCA increase diagnostic yield while prior gene panel testing decreases it.

The paper presents CHANGER, a Chilean exome reference dataset of 902 unrelated individuals, to improve genetic research and variant interpretation in South American populations.

The paper examines mitonuclear discordance in Latin American admixed populations, finding lower MND in affected individuals, especially for OXPHOS and high-mt genes, suggesting links to disease.

This study identifies prodromal Parkinson's disease features in adults with 22q11.2 microdeletion syndrome, showing signs like hyposmia and dysautonomia, with some evidence of dopaminergic signaling changes.

This study investigates how mitochondrial DNA heteroplasmy contributes to phenotypic variability in maternally transmitted 22q11.2 deletion syndrome, finding significant variation in palatal phenotype but not cardiac phenotype.

The paper describes a hybrid platform integrating predefined workflows with ad hoc analytics to simplify and reproduce the raw data-to-publication process in biomedical research.