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European Journal of Medical Genetics|November 23, 2021
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?Emanuela Lucci-Cordisco, Simona Amenta, Arianna Panfili, et al.
International Journal of Molecular Sciences|November 14, 2020
Regulation of T-cell Receptor Gene Expression by Three-Dimensional Locus Conformation and Enhancer FunctionAlonso Rodríguez-Caparrós, Jesús Álvarez-Santiago, María Jesús Del Valle-Pastor, et al.
Bioinformatics (Oxford, England)|May 13, 2021
CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection toolsJosé Marcos Moreno-Cabrera, Jesús Del Valle, Elisabeth Castellanos, et al.
International Journal of Molecular Sciences|April 30, 2021
The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young IndividualsCristina Carrato, Carolina Sanz, Ana María Muñoz-Mármol, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosisOlaya Villa, Miguel Del Campo, Marta Salido, et al.
European Journal of Human Genetics : EJHG|June 21, 2020
Evaluation of CNV detection tools for NGS panel data in genetic diagnosticsJosé Marcos Moreno-Cabrera, Jesús Del Valle, Elisabeth Castellanos, et al.
Scientific Reports|November 26, 2021
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variantPaula Rofes, Marta Pineda, Lídia Feliubadaló, et al.
Breast Cancer Research and Treatment|July 16, 2011
Identification of a new complex rearrangement affecting exon 20 of BRCA1Jesús Del Valle, Olga Campos, Angela Velasco, et al.
Journal of Medical Genetics|November 21, 2020
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancerJosé Marcos Moreno-Cabrera, Jesús Del Valle, Lidia Feliubadaló, et al.
Breast Cancer Research and Treatment|November 7, 2009
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genesJesús del Valle, Lídia Feliubadaló, Marga Nadal, et al.
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