2011

1. Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype

   American Journal of Human Genetics, Vol. 89, Núm. 2, pp. 295-301

2. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with phelan/mcdermid syndrome

   PLoS Genetics, Vol. 7, Núm. 7