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Human Mutation|September 13, 2013
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility allelesAna Osorio, Massimo Bogliolo, Victoria Fernández, et al.
American Journal of Human Genetics|April 30, 2013
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemiaMassimo Bogliolo, Beatrice Schuster, Chantal Stoepker, et al.
American Journal of Hematology|May 13, 2021
Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patientsMaría José Ramírez, Roser Pujol, Juan Pablo Trujillo-Quintero, et al.
Hemasphere|March 15, 2021
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure SyndromesEva Gálvez, Elena Vallespín, Elena G Arias-Salgado, et al.
Cancers|January 21, 2022
CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer SurvivalJordi Minguillón, María José Ramírez, Llorenç Rovirosa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragilityIrene Catucci, Ana Osorio, Brita Arver, et al.
Nature Communications|March 8, 2018
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1Gonzalo Hernández, María José Ramírez, Jordi Minguillón, et al.
Molecular Therapy. Methods & Clinical Development|September 6, 2021
Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposesJulián Sevilla, Susana Navarro, Paula Rio, et al.
Nature Medicine|September 11, 2019
Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemiaPaula Río, Susana Navarro, Wei Wang, et al.
Lancet (London, England)|December 6, 2024
Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trialsPaula Río, Josune Zubicaray, Susana Navarro, et al.
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