2022

1. First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL

   Human Mutation, Vol. 43, Núm. 10, pp. 1361-1367

2. Genetic diagnosis of basal ganglia disease in childhood

   Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752