Gabriela M. Repetto

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 shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart 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.

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.

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 identifies a mitochondrial transporter interactome disruption in 22q11.2 syndrome, linking it to synapse function and behavior.