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Cell Cycle (Georgetown, Tex.)|July 8, 2008
CDK redundancy guarantees cell cycle progression in Rb-negative tumor cells independently of their p16 statusMarta Santamariña, Gonzalo Hernández, Juan Zalvide
Plos One|April 2, 2014
Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangementsLaura Fachal, Ana Blanco, Marta Santamariña, et al.
Breast Cancer Research and Treatment|August 4, 2014
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer familiesAna Blanco, Sara Gutiérrez-Enríquez, Marta Santamariña, et al.
Dermatology (Basel, Switzerland)|October 19, 2013
Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyriaFrancisco Javier García-Martínez, Enrique Gutiérrez-González, Julio Alonso-González, et al.
European Urology Open Science|August 7, 2026
Clinical Impact of Germline Pathogenic Variants in High-risk Prostate Cancer Treated with RadiotherapyJavier Galego-Carro, Marta Santamariña, Ana Blanco-Pérez, et al.
Clinical Chemistry|January 7, 2026
Splicing Predictions, Splicing Assays, and Variant Classification Using ACMG/AMP Guidelines: Challenges Observed with BRCA1 and BRCA2 VariantsMarta Santamariña, Olivia Fuentes-Ríos, Ana Blanco-Pérez, et al.
Frontiers in Genetics|September 21, 2018
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?Alejandro Moles-Fernández, Laura Duran-Lozano, Gemma Montalban, et al.
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.
Clinical Chemistry|December 6, 2020
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer PatientsLidia Feliubadaló, Alejandro Moles-Fernández, Marta Santamariña-Pena, et al.
The Journal of Molecular Diagnostics : JMD|October 21, 2023
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical AnalysisLuz-Marina Porras, Natàlia Padilla, Alejandro Moles-Fernández, et al.
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