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2022 3
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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, Allen J, García-Álvarez A, Pérez-Segura P, Durán M, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco-Sampedro EA. Bueno-Martínez E, et al. Among authors: velasco sampedro ea. J Pathol. 2022 Sep;258(1):83-101. doi: 10.1002/path.5979. Epub 2022 Jul 15. J Pathol. 2022. PMID: 35716007 Free PMC article.
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martínez E, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Infante M, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Among authors: velasco sampedro ea. Clin Chem. 2024 Jan 4;70(1):319-338. doi: 10.1093/clinchem/hvad125. Clin Chem. 2024. PMID: 37725924
Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.
Valenzuela-Palomo A, Sanoguera-Miralles L, Bueno-Martínez E, Esteban-Sánchez A, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Gómez-Barrero S, de la Hoya M, Velasco-Sampedro EA. Valenzuela-Palomo A, et al. Among authors: velasco sampedro ea. Cancers (Basel). 2022 Sep 19;14(18):4541. doi: 10.3390/cancers14184541. Cancers (Basel). 2022. PMID: 36139699 Free PMC article.
Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.
Sanoguera-Miralles L, Bueno-Martínez E, Valenzuela-Palomo A, Esteban-Sánchez A, Llinares-Burguet I, Pérez-Segura P, García-Álvarez A, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Among authors: velasco sampedro ea. Cancers (Basel). 2022 Jun 15;14(12):2960. doi: 10.3390/cancers14122960. Cancers (Basel). 2022. PMID: 35740625 Free PMC article.
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.
Sanoguera-Miralles L, Llinares-Burguet I, Bueno-Martínez E, Ramadane-Morchadi L, Stuani C, Valenzuela-Palomo A, García-Álvarez A, Pérez-Segura P, Buratti E, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Among authors: velasco sampedro ea. J Pathol. 2024 Apr;262(4):395-409. doi: 10.1002/path.6243. Epub 2024 Feb 9. J Pathol. 2024. PMID: 38332730