List of works - Jesús Del Valle

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

scientific article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

article

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

scientific article published on 04 January 2017

Comments on: Sluiter MD and van Rensburg EJ, Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

scientific article published on 13 August 2010

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

scientific article published on 05 July 2020

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

scientific article published on 22 December 2018

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

scientific article

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

scientific article published on 2 June 2017

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients

scientific article published on 30 March 2020

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

scientific article

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.

scientific article

Identification of a founder BRCA1 mutation in the Moroccan population.

scientific article

Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.

scientific article

Identification of a new complex rearrangement affecting exon 20 of BRCA1.

scientific article published on 15 July 2011

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

scientific article published on 16 January 2016

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

scientific article

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

Primary constitutional MLH1 epimutations: a focal epigenetic event

scientific article published on 04 October 2018

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants

scientific article

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.

scientific article published in May 2007

List of works by Jesús Del Valle

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Comments on: Sluiter MD and van Rensburg EJ, Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients

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

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.

Identification of a founder BRCA1 mutation in the Moroccan population.

Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.

Identification of a new complex rearrangement affecting exon 20 of BRCA1.

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

Primary constitutional MLH1 epimutations: a focal epigenetic event

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.