Last Updated: 09/26/2026
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Found 34 publications
Clinical and genetic characterization of constitutional MLH1 promoter hypermethylation: Implications for Lynch syndrome diagnosis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 26, 2025
Validation and Clinical Utility of a Pan-Cancer Circulating Tumor DNA Assay as a First-Approach Test.
Journal: The Journal of molecular diagnostics : JMD
Published: May 15, 2025
Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith-Wiedemann syndrome.
Journal: Clinical epigenetics
Published: January 13, 2025
From Diagnosis, Therapy Decision-Making to Genetic Risk Assessment: The Impact of ctDNA Testing on Comprehensive Cancer Management-A Case Report.
Journal: Journal of the National Comprehensive Cancer Network : JNCCN
Published: January 02, 2025
Accurate and Automated Genotyping of the CFTR Poly-T/TG Tract with CFTR-TIPS.
Journal: International journal of molecular sciences
Published: June 12, 2024
SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas: A Description of the First 652 Cases.
Journal: The Journal of molecular diagnostics : JMD
Published: October 24, 2023
A supervised learning method for classifying methylation disorders.
Journal: BMC bioinformatics
Published: September 20, 2023
Recommendations for Cell-Free DNA Assay Validations: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
Journal: The Journal of molecular diagnostics : JMD
Published: May 03, 2023
An Unexpected Diagnosis Uncovered by Quantitative Molecular Findings: A Case Report.
Journal: Journal of the National Comprehensive Cancer Network : JNCCN
Published: September 28, 2022
BRAF V600 Mutation Detection in Plasma Cell-Free DNA: NCCTG N0879 (Alliance).
Journal: Mayo Clinic proceedings. Innovations, quality & outcomes
Published: October 27, 2021
Assessment of RAS Dependency for BRAF Alterations Using Cancer Genomic Databases.
Journal: JAMA network open
Published: January 28, 2021
Last Updated: 09/26/2026