Anna Pages-Benet
Munich, BY, Germany
Last Updated: 09/26/2026
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Found 31 publications
Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics.
Journal: International journal of cancer
Published: October 14, 2025
Validation structures for sequence variants of uncertain significance in hereditary cancer.
Journal: European journal of human genetics : EJHG
Published: October 14, 2025
The UCSC Genome Browser database: 2026 update.
Journal: Nucleic acids research
Published: September 15, 2025
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.
Journal: Brain : a journal of neurology
Published: March 06, 2025
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.
Journal: Brain : a journal of neurology
Published: March 06, 2025
The UCSC Genome Browser database: 2025 update.
Journal: Nucleic acids research
Published: September 12, 2024
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.
Journal: Genetics in medicine open
Published: March 04, 2024
Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.
Journal: Genes
Published: January 29, 2024
The UCSC Genome Browser database: 2024 update.
Journal: Nucleic acids research
Published: September 15, 2023
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Journal: Journal of neuromuscular diseases
Published: July 10, 2023
The UCSC Genome Browser database: 2023 update.
Journal: Nucleic acids research
Published: September 15, 2022
Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients.
Journal: Journal of hematology & oncology
Published: May 20, 2022
Last Updated: 09/26/2026