2022

1. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia

   Journal of Medical Genetics, Vol. 59, Núm. 5, pp. 428-437

2. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

   Genetics in Medicine, Vol. 24, Núm. 12, pp. 2475-2486