Last Updated: 09/26/2026
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Found 71 publications
Whose Role Is It, Anyway? Ensuring Correct Genomic Variant Nomenclature in Published Literature.
Journal: Clinical chemistry
Published: February 25, 2026
Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome Sequencing.
Journal: Archives of pathology & laboratory medicine
Published: November 25, 2025
Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome Sequencing.
Journal: Archives of pathology & laboratory medicine
Published: November 25, 2025
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Journal: The Journal of molecular diagnostics : JMD
Published: March 05, 2025
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.
Journal: Genetics in medicine open
Published: August 23, 2024
Toward Proactive "Sequence-First" Risk Prediction for Inherited Cardiomyopathies.
Journal: JACC. Heart failure
Published: August 27, 2023
Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants.
Journal: Archives of pathology & laboratory medicine
Published: August 04, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
Journal: American journal of human genetics
Published: March 15, 2023
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 27, 2023
Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors.
Journal: The Journal of molecular diagnostics : JMD
Published: December 20, 2022
Elective genomic testing: Practice resource of the National Society of Genetic Counselors.
Journal: Journal of genetic counseling
Published: March 31, 2022
Last Updated: 09/26/2026