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Article

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2021

Zenner Kaitlyn, Jensen Dana M, Cook Tori T, Dmyterko Victoria, Bly Randall A, Ganti Sheila, Mirzaa Ghayda M, Dobyns William B, Perkins Jonathan A, Bennett James T

Abstract excerpt

PURPOSE: Vascular malformations (VM) are primarily caused by somatic activating pathogenic variants in oncogenes. Targeted pharmacotherapies are emerging but require molecular diagnosis. Since variants are currently only detected in malformation tissue, patients may be ineligible for clinical trials prior to surgery. We hypothesized that cell-free DNA (cfDNA) could provide molecular diagnoses for patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32884133
DOI: 10.1038/s41436-020-00943-8
PMCID: PMC7796969

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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