Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer‐rich regions and 38 spliceogenic variants
Sanoguera‐Miralles, Lara, Llinares‐Burguet, Inés, Bueno‐Martínez, Elena, Ramadane‐Morchadi, Lobna, Stuani, Cristiana, Valenzuela‐Palomo, Alberto, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Buratti, Emanuele, Hoya, Miguel, Velasco‐Sampedro, Eladio A
Published in The Journal of pathology (01.04.2024)
Published in The Journal of pathology (01.04.2024)
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Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants
Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Valenzuela‐Palomo, Alberto, Esteban‐Sánchez, Ada, Lorca, Víctor, Llinares‐Burguet, Inés, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Durán, Mercedes, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, Hoya, Miguel, Velasco‐Sampedro, Eladio A
Published in The Journal of pathology (01.09.2022)
Published in The Journal of pathology (01.09.2022)
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Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Bueno-Martínez, Elena, Esteban-Sánchez, Ada, Lorca, Víctor, Llinares-Burguet, Inés, García-Álvarez, Alicia, Pérez-Segura, Pedro, Infante, Mar, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike P G, de la Hoya, Miguel, Velasco-Sampedro, Eladio A
Published in Clinical chemistry (Baltimore, Md.) (04.01.2024)
Published in Clinical chemistry (Baltimore, Md.) (04.01.2024)
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Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C
Sanoguera-Miralles, Lara, Bueno-Martínez, Elena, Valenzuela-Palomo, Alberto, Esteban-Sánchez, Ada, Llinares-Burguet, Inés, Pérez-Segura, Pedro, García-Álvarez, Alicia, de la Hoya, Miguel, Velasco-Sampedro, Eladio A
Published in Cancers (15.06.2022)
Published in Cancers (15.06.2022)
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Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
Valenzuela-Palomo, Alberto, Sanoguera-Miralles, Lara, Bueno-Martínez, Elena, Esteban-Sánchez, Ada, Llinares-Burguet, Inés, García-Álvarez, Alicia, Pérez-Segura, Pedro, Gómez-Barrero, Susana, de la Hoya, Miguel, Velasco-Sampedro, Eladio A
Published in Cancers (19.09.2022)
Published in Cancers (19.09.2022)
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Splicing Dysregulation of Non-Canonical GC-5′ Splice Sites of Breast Cancer Susceptibility Genes ATM and PALB2
Llinares-Burguet, Inés, Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, García-Álvarez, Alicia, Bueno-Martínez, Elena, Velasco-Sampedro, Eladio A.
Published in Cancers (22.10.2024)
Published in Cancers (22.10.2024)
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Splicing Analysis of 16 IPALB2/I ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
Valenzuela-Palomo, Alberto, Sanoguera-Miralles, Lara, Bueno-Martínez, Elena, Esteban-Sánchez, Ada, Llinares-Burguet, Inés, García-Álvarez, Alicia, Pérez-Segura, Pedro, Gómez-Barrero, Susana, de la Hoya, Miguel, Velasco-Sampedro, Eladio A
Published in Cancers (01.09.2022)
Published in Cancers (01.09.2022)
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