Fabienne R. Calleja
Leiden, ZH, Netherlands
Last Updated: 09/26/2026
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Found 13 publications
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Journal: Human mutation
Published: November 12, 2021
Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 25, 2020
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 23, 2019
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Journal: Cancer research
Published: August 14, 2019
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 10, 2019
The functional impact of variants of uncertain significance in BRCA2.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 28, 2017
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
Journal: Cancer research
Published: September 19, 2016
The Extended ToxTracker Assay Discriminates Between Induction of DNA Damage, Oxidative Stress, and Protein Misfolding.
Journal: Toxicological sciences : an official journal of the Society of Toxicology
Published: January 01, 2016
Excision of translesion synthesis errors orchestrates responses to helix-distorting DNA lesions.
Journal: The Journal of cell biology
Published: April 15, 2015
Mechanism-based genotoxicity screening of metal oxide nanoparticles using the ToxTracker panel of reporter cell lines.
Journal: Particle and fibre toxicology
Published: March 13, 2014
Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 22, 2013
Last Updated: 09/26/2026