Publications by authors named "Birgit Funke"

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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.
Somak Roy, Martine W Tremblay, Edward Lockhart, Swaroop Aradhya, Pinar Bayrak-Toydemir, Birgit Funke

J Mol Diagn· August 2025

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Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges.
Laura K Conlin, Melissa J Landrum, Robert R Freimuth, Birgit Funke

Clin Chem· January 2025

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Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants.
Karen D Tsuchiya, Birgit Funke, Madhuri Hegde, Avni Santani, Rhona J Souers

Arch Pathol Lab Med· July 2024

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Toward Proactive "Sequence-First" Risk Prediction for Inherited Cardiomyopathies.
Sean J Jurgens, Birgit Funke

JACC Heart Fail· May 2024

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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.
Jeffrey A SoRelle, Birgit H Funke, Celeste C Eno, Jianling Ji, Avni Santani

J Mol Diagn· March 2024

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The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.
Joshua L Deignan, Vimla Aggarwal, Allen E Bale, Daniel B Bellissimo, Jessica K Booker, Birgit Funke

Genet Med Open· February 2024

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The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
Kathryn A McGurk, Xiaolei Zhang, Pantazis Theotokis, Kate Thomson, Andrew Harper, Birgit Funke

Am J Hum Genet· September 2023

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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).
Honey V Reddi, Hannah Wand, Birgit Funke, Michael T Zimmermann, Matthew S Lebo

Genet Med· May 2023

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Elective genomic testing: Practice resource of the National Society of Genetic Counselors.
Carrie L Blout Zawatsky, David Bick, Louise Bier, Birgit Funke, Matthew Lebo

J Genet Couns· April 2023

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A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute.
Marco L Leung, Jianling Ji, Samuel Baker, Jillian G Buchan, Theru A Sivakumaran, Birgit Funke

J Mol Diagn· February 2022

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Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project.
Emma Wilcox, Steven M Harrison, Edward Lockhart, Karl Voelkerding, Ira M Lubin, Birgit Funke

J Mol Diagn· November 2021

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The genetic architecture of Plakophilin 2 cardiomyopathy.
Annika M Dries, Anna Kirillova, Chloe M Reuter, John Garcia, Hana Zouk, Birgit Funke

Genet Med· October 2021

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Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.
Annika M Dries, Anna Kirillova, Chloe M Reuter, John Garcia, Hana Zouk, Birgit Funke

Genet Med· October 2021

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Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Francesco Mazzarotto, Megan H Hawley, Matteo Beltrami, Leander Beekman, Antonio de Marvao, Birgit Funke

Genet Med· May 2021

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Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Ana Morales, Alexander Ing, Christian Antolik, Christina Austin-Tse, Linnea M Baudhuin, Birgit H Funke

J Mol Diagn· May 2021

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Use of "Coldspot" Regions in Variant Classification.
Steven M Harrison, Birgit Funke

Clin Chem· October 2020

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An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Megan H Hawley, Naif Almontashiri, Leslie G Biesecker, Natalie Berger, Wendy K Chung, Birgit Funke

Hum Mutat· September 2020

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Design and Reporting Considerations for Genetic Screening Tests.
Jill Hagenkord, Birgit Funke, Emily Qian, Madhuri Hegde, Kevin B Jacobs

J Mol Diagn· May 2020

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Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Lora J H Bean, Birgit Funke, Colleen M Carlston, Jennifer L Gannon, Sibel Kantarci

Genet Med· March 2020

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Francesco Mazzarotto, Upasana Tayal, Rachel J Buchan, William Midwinter, Alicja Wilk, Birgit Funke

Circulation· February 2020

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Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.
Ozlem Senol-Cosar, Ryan J Schmidt, Emily Qian, Derick Hoskinson, Heather Mason-Suares, Birgit Funke

Genet Med· December 2019

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Best practices for benchmarking germline small-variant calls in human genomes.
Peter Krusche, Len Trigg, Paul C Boutros, Christopher E Mason, Francisco M De La Vega, Birgit Funke

Nat Biotechnol· May 2019

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Author Correction: Best practices for benchmarking germline small-variant calls in human genomes.
Peter Krusche, Len Trigg, Paul C Boutros, Christopher E Mason, Francisco M De La Vega, Birgit Funke

Nat Biotechnol· May 2019

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Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.
Victoria N Parikh, Colleen Caleshu, Chloe Reuter, Laura C Lazzeroni, Jodie Ingles, Birgit Funke

Circ Heart Fail· March 2019

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Jodie Ingles, Jennifer Goldstein, Courtney Thaxton, Colleen Caleshu, Edward W Corty, Birgit Funke

Circ Genom Precis Med· February 2019

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