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Cancers|July 2, 2021
<i>RAD51D</i> Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA VariantsElena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, et al.The Journal of Pathology|June 18, 2022
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variantsElena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, et al.Clinical Chemistry|September 19, 2023
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site VariantsLara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, et al.Cancers|December 18, 2020
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the <i>RAD51C</i> GeneLara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, et al.The Journal of Pathology|November 30, 2021
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variantsAlberto Valenzuela-Palomo, Elena Bueno-Martínez, Lara Sanoguera-Miralles, et al.Journal of Medical Genetics|March 21, 2019
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA reportIrene Lopez-Perolio, Raphaël Leman, Raquel Behar, et al.Pageof 2