Publications
PAX1 is essential for development and function of the human thymus
2020. Article. https://immunology.sciencemag.org/content/5/44/eaax1036.long
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
2017. Article. https://academic.oup.com/hmg/article/26/24/4937/4356565
Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center’s experience
Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy