Secuenciación en pesquisa neonatal y diagnóstico pediátrico

– Provision and availability of genomic medicine services in Level IV neonatal intensive care units. Genetics in Medicine, 2023;25(10):100926.
– Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. The Lancet Neurology, 2023;22(9):812-825.
– Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening. JAMA Netw Open. 2023;6(9):e2331162.