2022

1. Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility

   Science Advances, Vol. 8, Núm. 44

2. Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

   Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1