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Eva Montes
Institutions:
Institut d'Investigació Biomédica de Bellvitge,
Institut Català d'Oncologia
Observed institutions:
Institut d'Investigació Biomédica de Bellvitge,
Institut Català d'Oncologia,
Institut d'Investigació Biomèdica de Girona,
Centro de Investigación Biomédica en Red de Cáncer
OpenAlex ID:
A5110094779
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
2019
·
Michael T. Parsons
, Emma Tudini
, et al.
·
Human Mutation
·
145
PDF
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes
2012
·
Lídia Feliubadaló
, Adriana Lopez-Doriga
, et al.
·
European Journal of Human Genetics
·
111
ERCC3, a new ovarian cancer susceptibility gene?
2020
·
Agostina Stradella
, Jesús del Valle
, et al.
·
European Journal of Cancer
·
18
Improving Genetic Testing in Hereditary Cancer by RNA Analysis
2020
·
Paula Rofes
, Mireia Menéndez
, et al.
·
Journal of Molecular Diagnostics
·
14
PDF
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate
2025
·
Paula Rofes
, Carmen Castillo-Manzano
, et al.
·
Genome Medicine
·
10
PDF
ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High-Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next-Generation Sequencing
2013
·
Adriana Lopez-Doriga
, Lídia Feliubadaló
, et al.
·
Human Mutation
·
2
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant
2021
·
Paula Rofes
, Marta Pineda
, et al.
·
Scientific Reports
PDF
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Works count:
7
Citation count:
300
H-index:
5
I10-index:
5
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