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European Journal of Human Genetics : EJHG|March 17, 2026
Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genesElisabet Munté, Ferran Muiños, Raúl Marín, et al.
Briefings in Bioinformatics|December 12, 2024
Detection of germline CNVs from gene panel data: benchmarking the state of the artElisabet Munté, Carla Roca, Jesús Del Valle, et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico|September 8, 2023
Risk of endometrial cancer after RRSO in BRCA 1/2 carriers: a multicentre cohort studyHelena Pla-Juher, Marta Pardo, Àngel J Izquierdo, et al.
Bioinformatics (Oxford, England)|March 14, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelinesElisabet Munté, Lidia Feliubadaló, Marta Pineda, et al.
Cancers|August 7, 2021
Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic VariantsPilar Mur, Nuria Bonifaci, Anna Díez-Villanueva, et al.
The Journal of Molecular Diagnostics : JMD|June 8, 2024
Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS DataElisabet Munté, Lídia Feliubadaló, Jesús Del Valle, et al.
Journal of Genetic Counseling|February 7, 2023
Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive resultAdrià López-Fernández, Guillermo Villacampa, Mònica Salinas, et al.
Journal of Clinical Immunology|May 27, 2025
From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 SeverityArnau Antolí, Gardenia Vargas-Parra, Angels Sierra-Fortuny, et al.
Genome Medicine|January 14, 2025
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection ratePaula Rofes, Carmen Castillo-Manzano, Mireia Menéndez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 20, 2025
DICER1 in pediatric and adult cancer predisposition populations: Prevalence, phenotypes, and mosaicismLluis Salvador, Jesús Del Valle, Eduard Dorca, et al.
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