Concepedia

Eugenia Fraile‐Bethencourt

EF

11

Publications

304

Citations

11

H-Index

2017

Active since

Affiliations

Instituto de Biomedicina y Genética Molecular de Valladolid(Current)

Consejo Superior de Investigaciones Científicas

Oregon Health & Science University

University of Cambridge

Instituto de Investigación Sanitaria del Hospital Clínico San Carlos

Eugenia Fraile‐Bethencourt is an author at Instituto de Biomedicina y Genética Molecular de Valladolid specializing in molecular diagnostics, medicine, and functional genomics.

ORCID

Top concepts

Publications per year

2017–2023

11

Publications

11

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18

Eugenia Fraile‐Bethencourt, Beatriz Díez‐Gómez, Valeria Velásquez‐Zapata et al. · PLoS Genetics · 2017 · 66 citations · Full text

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Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays

Eugenia Fraile‐Bethencourt, Alberto Valenzuela‐Palomo, Beatriz Díez‐Gómez et al. · Frontiers in Genetics · 2018 · 43 citations · Full text

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

Eugenia Fraile‐Bethencourt, Alberto Valenzuela‐Palomo, Beatriz Díez‐Gómez et al. · Frontiers in Genetics · 2019 · 36 citations · Full text

Mis‐splicing in breast cancer: identification of pathogenic <i>BRCA2</i> variants by systematic minigene assays

Eugenia Fraile‐Bethencourt, Alberto Valenzuela‐Palomo, Beatriz Díez‐Gómez et al. · The Journal of Pathology · 2019 · 33 citations

Splicing predictions, minigene analyses, and <scp>ACMG</scp>‐<scp>AMP</scp> clinical classification of 42 germline <scp><i>PALB2</i></scp> splice‐site variants

Alberto Valenzuela‐Palomo, Elena Bueno‐Martínez, Lara Sanoguera‐Miralles et al. · The Journal of Pathology · 2021 · 25 citations · Full text

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