Marta C. Pineda
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 127 publications
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
Somatic mutations in cervicovaginal samples: assessing their role in ovarian cancer detection and prognosis.
Journal: Translational oncology
Published: May 20, 2025
Discovery and validation of frameshift-derived neopeptides in Lynch syndrome: paving the way for novel cancer prevention strategies.
Journal: Journal for immunotherapy of cancer
Published: March 23, 2025
MLH1 c.27G>A (p.Arg9=) is a synonymous likely/pathogenic variant underlying variably mosaic constitutional MLH1 methylation in Lynch syndrome.
Journal: Familial cancer
Published: March 07, 2025
Genomic analysis of T Cell receptors reveals lynch syndrome specific immune signatures.
Journal: Nature communications
Published: January 30, 2025
Molecular profiling unveils genetic complexity and identifies potential new driver mechanisms in head and neck paragangliomas.
Journal: Genes & diseases
Published: November 04, 2024
Gene-Specific Detection Rate of Adenomas and Advanced Adenomas in Lynch Syndrome.
Journal: Gastroenterology
Published: September 22, 2024
Acceptability and somatic mutations in cervicovaginal self-sampling for early endometrial cancer detection in women with Lynch syndrome.
Journal: International journal of cancer
Published: September 19, 2024
Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.
Journal: Clinical epigenetics
Published: July 19, 2024
Detection of germline CNVs from gene panel data: benchmarking the state of the art.
Journal: Briefings in bioinformatics
Published: June 11, 2024
Last Updated: 09/26/2026