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Frontiers in Genetics|March 27, 2020
<i>UGT1A1</i> Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene AssaysLinda Gailite, Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, et al.Cancers|November 9, 2024
Splicing Dysregulation of Non-Canonical GC-5' Splice Sites of Breast Cancer Susceptibility Genes <i>ATM</i> and <i>PALB2</i>Inés Llinares-Burguet, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, et al.NPJ Genomic Medicine|May 9, 2025
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impactDaffodil M Canson, Inés Llinares-Burguet, Cristina Fortuno, et al.The Journal of Pathology|November 13, 2025
Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretationInés Llinares-Burguet, Lara Sanoguera-Miralles, Elena Bueno-Martínez, et al.Journal of Molecular Medicine (Berlin, Germany)|September 20, 2025
Unproductive alternative splicing of ATM exon 7: mapping of critical regulatory elements and identification of 34 spliceogenic variantsInés Llinares-Burguet, Lara Sanoguera-Miralles, Alicia García-Álvarez, et al.Cancers|June 24, 2022
Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene <i>RAD51C</i>Lara Sanoguera-Miralles, Elena Bueno-Martínez, Alberto Valenzuela-Palomo, et al.Human Genomics|January 9, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assaysCristina Fortuno, Inés Llinares-Burguet, Daffodil M Canson, et al.Cancers|September 23, 2022
Splicing Analysis of 16 <i>PALB2</i> ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic VariantsAlberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Elena Bueno-Martínez, et al.The Journal of Pathology|February 9, 2024
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variantsLara Sanoguera-Miralles, Inés Llinares-Burguet, Elena Bueno-Martínez, et al.Cancers|February 15, 2022
Germline Variants of <i>CYBA</i> and <i>TRPM4</i> Predispose to Familial Colorectal CancerLizhen Zhu, Beiping Miao, Dagmara Dymerska, et al.Pageof 2