Paula Rofes

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 20 publications

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Journal: JCO precision oncology

Published: April 16, 2026

APC Mosaicism: The Limited Utility of Ancillary Testing in Normal Colonic Mucosa.

APC Mosaicism: The Limited Utility of Ancillary Testing in Normal Colonic Mucosa.

Journal: Gastroenterology

Published: March 20, 2026

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.

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.

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.

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.

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.

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

Journal: Genome medicine

Published: August 13, 2024

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.

Journal: Cancer medicine

Published: November 18, 2023

Biological basis of extensive pleiotropy between blood traits and cancer risk.

Biological basis of extensive pleiotropy between blood traits and cancer risk.

Journal: Genome medicine

Published: August 11, 2023

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

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

Journal: European journal of human genetics : EJHG

Published: September 29, 2021

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.

Journal: Scientific reports

Published: September 22, 2021

Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.

Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.

Journal: The Journal of molecular diagnostics : JMD

Published: May 03, 2021

Showing 1-12 of 20

Last Updated: 09/26/2026