Last Updated: 09/26/2026
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Found 8 publications
Experiences With Detection of Higher-Copy Sex Chromosome Aneuploidy by cfDNA Screening: The Critical Role of Diagnostic Testing.
Journal: American journal of medical genetics. Part A
Published: June 27, 2025
Assessing and Resolving Findings of Sex Chromosome Discordance in Genetic Testing.
Journal: The journal of applied laboratory medicine
Published: May 27, 2025
Phase Determination and Demonstration of Parental Mosaicism of Intragenic PRKN Deletions Initially Identified by Chromosomal Microarray Analysis.
Journal: Genes
Published: May 08, 2025
Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing.
Journal: Genetics in medicine open
Published: April 23, 2025
Detection of an MN1::ETV6 Gene Fusion in a Case of Acute Myeloid Leukemia with Erythroid Differentiation: A Case Report and Review of the Literature.
Journal: Case reports in hematology
Published: April 05, 2023
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders.
Journal: The Journal of molecular diagnostics : JMD
Published: January 20, 2023
A novel substitution of proline (P32L) destabilises β2-microglobulin inducing hereditary systemic amyloidosis.
Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
Published: May 16, 2022
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Last Updated: 09/26/2026