Birgit Funke

Icahn School of Medicine at Mount Sinai — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

49h-index12.0kcitations137works1.22yr avg
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Research Topics

Genomics and Rare Diseases(55), Cardiomyopathy and Myosin Studies(37), Congenital heart defects research(32), Cancer Genomics and Diagnostics(22), Genetic Associations and Epidemiology(17)

Publications137 total

From Expert Knowledge to Validation Resources
Journal of Molecular Diagnostics·2025Open Access
Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges
Clinical Chemistry·2025Open Access
Genetic sex validation for sample tracking in next-generation sequencing clinical testing
BMC Research Notes·2024· 5 citedOpen Access
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors
Genetics in Medicine Open·2024· 1 citedOpen Access
P677: Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen’s Cardiomyopathy Variant Curation Expert Panel
Genetics in Medicine Open·2024Open Access
Slice Testing—Considerations from Ordering to Reporting
Journal of Molecular Diagnostics·2023· 8 cited
Toward Proactive “Sequence-First” Risk Prediction for Inherited Cardiomyopathies
JACC Heart Failure·2023· 1 citedOpen Access
Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants
Archives of Pathology & Laboratory Medicine·2023· 2 citedOpen Access
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
The American Journal of Human Genetics·2023· 55 citedOpen Access
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)
Genetics in Medicine·2023· 23 citedOpen Access
The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findings
2023· 3 citedOpen Access
Elective genomic testing: Practice resource of the National Society of Genetic Counselors
Journal of Genetic Counseling·2023· 14 citedOpen Access
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute
Journal of Molecular Diagnostics·2022· 7 citedOpen Access
Physician-Mediated Elective Whole Genome Sequencing Tests
Cambridge University Press eBooks·2021
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy
Genetics in Medicine·2021· 1 citedOpen Access
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation
Journal of Molecular Diagnostics·2021· 7 citedOpen Access
Neptune: an environment for the delivery of genomic medicine
Genetics in Medicine·2021· 7 citedOpen Access
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project
2021· 1 citedOpen Access
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)
Journal of Molecular Diagnostics·2021· 7 citedOpen Access
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
Genetics in Medicine·2021· 78 citedOpen Access
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Frequent Co-authors

Heidi L. Rehm(15), James S. Ware(11), Roddy Walsh(10), Stuart A. Cook(10), Bernice E. Morrow(7), Raju Kucherlapati(7), Kate Thomson(7), Paul J.R. Barton(7), Mark Bowser(7), Hugh Watkins(7), Madhuri Hegde(6), Daniel G. MacArthur(6), Nicola Whiffin(6), Elizabeth Hynes(6), Francesco Mazzarotto(5), Matthew S. Lebo(5), Samantha Baxter(5), Anil K. Malhotra(5), Raju Kucherlapati(5), Elaine Lyon(4)