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Year | Number of Results |
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2021 | 2 |
2022 | 5 |
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Page 1
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
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: esteban sanchez a.
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.
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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: esteban sanchez a.
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.
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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: esteban sanchez a.
Cancers (Basel). 2022 Jun 15;14(12):2960. doi: 10.3390/cancers14122960.
Cancers (Basel). 2022.
PMID: 35740625
Free PMC article.
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, Tudini E, Törngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, Møller P, Borg Å, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Calléja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Macháčková E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A; ENIGMA Consortium; Vreeswijk MPG, de la Hoya M, Spurdle AB.
Thomassen M, et al. Among authors: esteban sanchez a.
Hum Mutat. 2022 Dec;43(12):1921-1944. doi: 10.1002/humu.24449. Epub 2022 Oct 23.
Hum Mutat. 2022.
PMID: 35979650
Free PMC article.
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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: esteban sanchez a.
Cancers (Basel). 2022 Sep 19;14(18):4541. doi: 10.3390/cancers14184541.
Cancers (Basel). 2022.
PMID: 36139699
Free PMC article.
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Genomic Mapping of Splicing-Related Genes Identify Amplifications in LSM1, CLNS1A, and ILF2 in Luminal Breast Cancer.
Noblejas-López MDM, López-Cade I, Fuentes-Antrás J, Fernández-Hinojal G, Esteban-Sánchez A, Manzano A, García-Sáenz JÁ, Pérez-Segura P, La Hoya M, Pandiella A, Győrffy B, García-Barberán V, Ocaña A.
Noblejas-López MDM, et al. Among authors: esteban sanchez a.
Cancers (Basel). 2021 Aug 16;13(16):4118. doi: 10.3390/cancers13164118.
Cancers (Basel). 2021.
PMID: 34439272
Free PMC article.
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