| Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants A Valenzuela‐Palomo, E Bueno‐Martínez, L Sanoguera‐Miralles, ... The Journal of Pathology 256 (3), 321-334, 2022 | 22 | 2022 |
| Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer L Zhu, B Miao, D Dymerska, M Kuswik, E Bueno-Martínez, ... Cancers 14 (3), 670, 2022 | 19 | 2022 |
| UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays L Gailite, A Valenzuela-Palomo, L Sanoguera-Miralles, D Rots, M Kreile, ... Frontiers in Genetics 11, 169, 2020 | 19 | 2020 |
| Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene L Sanoguera-Miralles, A Valenzuela-Palomo, E Bueno-Martínez, P Llovet, ... Cancers 12 (12), 3771, 2020 | 18 | 2020 |
| RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants E Bueno-Martínez, L Sanoguera-Miralles, A Valenzuela-Palomo, V Lorca, ... Cancers 13 (11), 2845, 2021 | 16 | 2021 |
| Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants E Bueno‐Martínez, L Sanoguera‐Miralles, A Valenzuela‐Palomo, ... The Journal of Pathology 258 (1), 83-101, 2022 | 13 | 2022 |
| Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants L Sanoguera-Miralles, A Valenzuela-Palomo, E Bueno-Martínez, ... Clinical chemistry 70 (1), 319-338, 2024 | 6 | 2024 |
| Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C L Sanoguera-Miralles, E Bueno-Martínez, A Valenzuela-Palomo, ... Cancers 14 (12), 2960, 2022 | 6 | 2022 |
| Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants A Valenzuela-Palomo, L Sanoguera-Miralles, E Bueno-Martínez, ... Cancers 14 (18), 4541, 2022 | 4 | 2022 |
| Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer‐rich regions and 38 spliceogenic variants L Sanoguera‐Miralles, I Llinares‐Burguet, E Bueno‐Martínez, ... The Journal of Pathology 262 (4), 395-409, 2024 | 2 | 2024 |
| Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays C Fortuno, I Llinares-Burguet, DM Canson, M de la Hoya, ... Human Genomics 19, 2, 2025 | | 2025 |
| Splicing Dysregulation of Non-Canonical GC-5′ Splice Sites of Breast Cancer Susceptibility Genes ATM and PALB2 I Llinares-Burguet, L Sanoguera-Miralles, A Valenzuela-Palomo, ... Cancers 16 (21), 3562, 2024 | | 2024 |
| TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact DM Canson, I Llinares-Burguet, C Fortuno, L Sanoguera-Miralles, ... bioRxiv, 2024.10. 07.617118, 2024 | | 2024 |
| Alteración de los patrones de splicing en genes de susceptibilidad a cáncer de mama: análisis funcional mediante minigenes híbridos. L Sanoguera Miralles | | 2024 |
| Análisis de splicing, basado en minigenes, de 25 variantes del gen atm: clasificación tentativa en base a indicadores biológicos I Llinares-Burguet, L Sanoguera-Miralles, E Bueno-Martínez, ... | | 2023 |
| Caracterización funcional mediante minigenes reporteros de splicing e interpretación clínica de 52 variantes del gen CHEK2 L Sanoguera-Miralles, I Llinares-Burguet, E Bueno-Martínez, ... | | 2023 |
| Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants A Valenzuela-Palomo, E Bueno-Martínez, L Sanoguera-Miralles, V Lorca, ... J Pathol 261, 372-373, 2023 | | 2023 |
| TP53 exon 6 and intron 6 microdeletions spanning splicing regulatory elements lead to exon skipping D Canson, I Llinares-Burguet, C Fortuno, L Sanoguera-Miralles, M Hoya, ... | | 2023 |
| Splicing Assays of CHEK2 variants and microdeletions located at exons 8 and 10: identification of splicing regulatory elements L Sanoguera-Miralles, E Velasco DIGITAL. CSIC, 2023 | | 2023 |
| Análisis funcional mediante minigenes híbridos de las variantes del gen CHEK2 detectadas en el proyecto europeo BRIDGES L Sanoguera-Miralles, I Llinares-Burguet, E Bueno-Martínez, ... | | 2023 |
