Publicacions en col·laboració amb investigadors/es de Hospital Clínico San Carlos de Madrid (5)

2022

  1. 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

2020

  1. Clinical and Pathological Characterization of Lynch-Like Syndrome

    Clinical Gastroenterology and Hepatology, Vol. 18, Núm. 2, pp. 368-374.e1

2018

  1. Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer

    Gastroenterology, Vol. 154, Núm. 1, pp. 181-194.e20

2015

  1. Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

    Gastroenterology, Vol. 149, Núm. 3, pp. 563-566

2014

  1. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families

    Clinical Genetics, Vol. 85, Núm. 3, pp. 260-266