Jesus C. Del Valle

BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications.

Journal: European journal of human genetics : EJHG

Published: February 08, 2026

Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection.

Journal: European journal of human genetics : EJHG

Published: July 30, 2025

Autoantibodies neutralizing type I interferons remain a significant risk factor for critical COVID-19 pneumonia in vaccinated patients.

Journal: Clinical immunology (Orlando, Fla.)

Published: February 26, 2025

From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity.

Journal: Journal of clinical immunology

Published: February 21, 2025

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

Journal: Genome medicine

Published: August 13, 2024

Detection of germline CNVs from gene panel data: benchmarking the state of the art.

Journal: Briefings in bioinformatics

Published: June 11, 2024

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

Journal: Database : the journal of biological databases and curation

Published: April 02, 2024

Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data.

Journal: The Journal of molecular diagnostics : JMD

Published: February 12, 2024

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

Journal: Cancer medicine

Published: November 18, 2023

The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.

Journal: Nucleic acids research

Published: August 08, 2023

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications.

BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications.

Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection.

Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection.

Autoantibodies neutralizing type I interferons remain a significant risk factor for critical COVID-19 pneumonia in vaccinated patients.

Autoantibodies neutralizing type I interferons remain a significant risk factor for critical COVID-19 pneumonia in vaccinated patients.

From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity.

From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity.

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

Detection of germline CNVs from gene panel data: benchmarking the state of the art.

Detection of germline CNVs from gene panel data: benchmarking the state of the art.

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data.

Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data.

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.

The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Mosaicism in PTEN-new case and comment on the literature.

Mosaicism in PTEN-new case and comment on the literature.