Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 G Hernández, MJ Ramírez, J Minguillón, P Quiles, G Ruiz de Garibay, ... Nature communications 9 (1), 967, 2018 | 41 | 2018 |
Exploring the link between MORF4L1 and risk of breast cancer G Martrat, CA Maxwell, E Tominaga, M Porta-De-La-Riva, N Bonifaci, ... Breast cancer research 13, 1-14, 2011 | 32 | 2011 |
Targeting DNA repair defects for precision medicine in prostate cancer A Athie, S Arce-Gallego, M Gonzalez, R Morales-Barrera, C Suarez, ... Current Oncology Reports 21, 1-10, 2019 | 19 | 2019 |
Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease—report of new cases F Celma Nos, G Hernández, X Ferrer-Cortès, I Hernandez-Rodriguez, ... International Journal of Molecular Sciences 22 (11), 5451, 2021 | 13 | 2021 |
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis G Hernández, X Ferrer-Cortès, V Venturi, M Musri, MF Pilquil, PMM Torres, ... Genes, 2021 | 9 | 2021 |
New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation L Romero-Cortadellas, G Hernández, X Ferrer-Cortès, L Zalba-Jadraque, ... International journal of molecular sciences 23 (8), 4406, 2022 | 5 | 2022 |
Autosomal recessive congenital dyserythropoietic anemia type III is caused by mutations in the centralspindlin RACGAP1 component L Romero-Cortadellas, G Hernández, X Ferrer-Cortès, V Venturi, ... Blood 138 (Supplement 1), 847-847, 2021 | 5 | 2021 |
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III G Hernández, L Romero-Cortadellas, X Ferrer-Cortès, V Venturi, ... Haematologica 108 (2), 581, 2023 | 4 | 2023 |
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II MM Musri, V Venturi, X Ferrer-Cortès, L Romero-Cortadellas, ... International Journal of Molecular Sciences 24 (12), 9935, 2023 | 2 | 2023 |
Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells M Dessy-Rodriguez, S Fañanas-Baquero, V Venturi, S Payán-Pernía, ... Blood 136, 27, 2020 | 2 | 2020 |
S274: A NOVEL SUBTYPE OF ANEMIA CAUSED BY MUTATIONS IN TFRC GENE S Colucci, V Venturi, F Nicole, DJ Solavera, M Zimon, ... HemaSphere 6, 175-176, 2022 | 1 | 2022 |
Erythropoietin supplementation ameliorates the immunological and hematological deficiencies of lysinuric protein intolerance in mice J Giroud-Gerbetant, F Sotillo, J Couso, A Zorzano, M Sanchez, G Weiss, ... bioRxiv 10 (2021.08), 15.456393, 2022 | 1 | 2022 |
Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II M Dessy-Rodriguez, S Fañanas-Baquero, V Venturi, S Payan, C Tornador, ... Blood 138, 1994, 2021 | 1 | 2021 |
S289: PPP1R1B BINDS IRON REGULATORY PROTEINS AND MODULATES IRON CELLULAR CONTENT LC López, G Hernández, FC Nos, M Sanchez HemaSphere 7 (S3), e532625e, 2023 | | 2023 |
P1475: MUTATIONS IN THE GAP DOMAIN OF RACGAP1 CAUSE DEVELOPMENTAL AND ERYTHROID DEFECTS IN ZEBRAFISH L Romero-Cortadellas, A Bañón, G Hernández, S Pérez-Montero, ... HemaSphere 7 (S3), e01629bb, 2023 | | 2023 |
S289: PPP1R1B Binds Iron Regulatory Proteins and Modulates Iron Cellular Content L Calvo López, G Hernández, F Celma Nos, M Sanchez The European Hematology Association, 2023 | | 2023 |
P1431: MOLECULAR CHARACTERIZATION AND LENTIVIRAL CORRECTION OF IN VITRO ERYTHROPOIEIS IN PATIENTS WITH A NOVEL RECESSIVE CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III (CDA TYPE … G Hernández, L Romero-Cortadellas, X Ferrer-Cortès, V Venturi, ... HemaSphere 6, 1314-1315, 2022 | | 2022 |
Correction of Congenital Dyserythropoietic Anemia Type II Using Lentiviral Gene Therapy M Dessy-Rodriguez, O Quintana-Bustamante, JC Segovia, ... MOLECULAR THERAPY 30 (4), 327-327, 2022 | | 2022 |
CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival J Minguillón, MJ Ramírez, L Rovirosa, P Bustamante-Madrid, ... Cancers 14 (2), 353, 2022 | | 2022 |
CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival. Cancers 2022, 14, 353 J Minguillón, MJ Ramírez, L Rovirosa, P Bustamante-Madrid, ... s Note: MDPI stays neutral with regard to jurisdictional claims in published …, 2022 | | 2022 |