POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillanceFernando Bellido, Laura Valle, Esther Darder et al.|Genetics in Medicine|2015Cited by 265
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA RepairNúria Seguí, Laura Valle, Leonardo Mina et al.|Gastroenterology|2015Cited by 105
Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataGiorgio Casari, Carles Hernandéz-Ferrer, Davide Piscia et al.|European Journal of Human Genetics|2021Cited by 74
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cellsMaria A Andrianova, Laura Valle, Vladimir B. Seplyarskiy et al.|European Journal of Human Genetics|2024Cited by 14
Extended family with an inherited pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading deficiency in human cellsMaria Andrianova, Laura Valle, Vladimir B. Seplyarskiy et al.|bioRxiv (Cold Spring Harbor Laboratory)|2022Cited by 7