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Page 1
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. Clin Chem. 2024 Jan 4;70(1):319-338. doi: 10.1093/clinchem/hvad125. Clin Chem. 2024. PMID: 37725924
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: sanoguera miralles l. 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.
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer.
Zhu L, Miao B, Dymerska D, Kuswik M, Bueno-Martínez E, Sanoguera-Miralles L, Velasco EA, Paramasivam N, Schlesner M, Kumar A, Yuan Y, Lubinski J, Bandapalli OR, Hemminki K, Försti A. Zhu L, et al. Among authors: sanoguera miralles l. Cancers (Basel). 2022 Jan 28;14(3):670. doi: 10.3390/cancers14030670. Cancers (Basel). 2022. PMID: 35158942 Free PMC article.
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo A, Bueno-Martínez E, Sanoguera-Miralles L, Lorca V, Fraile-Bethencourt E, Esteban-Sánchez A, Gómez-Barrero S, Carvalho S, Allen J, García-Álvarez A, Pérez-Segura P, Dorling L, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco EA. Valenzuela-Palomo A, et al. Among authors: sanoguera miralles l. J Pathol. 2022 Mar;256(3):321-334. doi: 10.1002/path.5839. Epub 2021 Dec 28. J Pathol. 2022. PMID: 34846068 Free PMC article.
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: sanoguera miralles l. Cancers (Basel). 2022 Sep 19;14(18):4541. doi: 10.3390/cancers14184541. Cancers (Basel). 2022. PMID: 36139699 Free PMC article.
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.
Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martínez E, Llovet P, Díez-Gómez B, Caloca MJ, Pérez-Segura P, Fraile-Bethencourt E, Colmena M, Carvalho S, Allen J, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco EA. Sanoguera-Miralles L, et al. Cancers (Basel). 2020 Dec 15;12(12):3771. doi: 10.3390/cancers12123771. Cancers (Basel). 2020. PMID: 33333735 Free PMC article.
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.
Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Lorca V, Gómez-Sanz A, Carvalho S, Allen J, Infante M, Pérez-Segura P, Lázaro C, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco EA. Bueno-Martínez E, et al. Among authors: sanoguera miralles l. Cancers (Basel). 2021 Jun 7;13(11):2845. doi: 10.3390/cancers13112845. Cancers (Basel). 2021. PMID: 34200360 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. J Pathol. 2024 Apr;262(4):395-409. doi: 10.1002/path.6243. Epub 2024 Feb 9. J Pathol. 2024. PMID: 38332730