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Author Details

Birgit Funke
Partners Healthcare Center for Personalized Genetic Medicine
1994
98
48
PMIDPaper TitleJournal TitlePublished Year
36597794Elective genomic testing: Practice resource of the National Society of Genetic Counselors.J Genet Couns2023
37652022The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.Am J Hum Genet2023
36971772Laboratory 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).Genet Med2023
36597794Elective genomic testing: Practice resource of the National Society of Genetic Counselors.J Genet Couns2023
37652022The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.Am J Hum Genet2023
36971772Laboratory 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).Genet Med2023
35074075A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute.J Mol Diagn2022
35074075A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute.J Mol Diagn2022
34120153The genetic architecture of Plakophilin 2 cardiomyopathy.Genet Med2021
34120153The genetic architecture of Plakophilin 2 cardiomyopathy.Genet Med2021
33631351Harmonizing 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.J Mol Diagn2021
33500567Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.Genet Med2021
34408292Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.Genet Med2021
33500567Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.Genet Med2021
33631351Harmonizing 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.J Mol Diagn2021
34408292Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.Genet Med2021
32516855An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.Hum Mutat2020
31732716Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2020
31983221Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.Circulation2020
32092541Design and Reporting Considerations for Genetic Screening Tests.J Mol Diagn2020
32516855An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.Hum Mutat2020
33001183Use of "Coldspot" Regions in Variant Classification.Clin Chem2020
31732716Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2020
31983221Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.Circulation2020
32092541Design and Reporting Considerations for Genetic Screening Tests.J Mol Diagn2020
33001183Use of "Coldspot" Regions in Variant Classification.Clin Chem2020
30609406Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.Am J Hum Genet2019
30605766Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories.J Mol Diagn2019
30588760Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.Am J Med Genet A2019
30181607Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.Genet Med2019
30609406Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.Am J Hum Genet2019
30871351Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.Circ Heart Fail2019
30858580Best practices for benchmarking germline small-variant calls in human genomes.Nat Biotechnol2019
30681346Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.Circ Genom Precis Med2019
30899106Author Correction: Best practices for benchmarking germline small-variant calls in human genomes.Nat Biotechnol2019
31147632Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.Genet Med2019
30181607Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.Genet Med2019
30899106Author Correction: Best practices for benchmarking germline small-variant calls in human genomes.Nat Biotechnol2019
30858580Best practices for benchmarking germline small-variant calls in human genomes.Nat Biotechnol2019
31147632Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.Genet Med2019
30871351Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.Circ Heart Fail2019
30605766Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories.J Mol Diagn2019
30681346Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.Circ Genom Precis Med2019
30588760Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.Am J Med Genet A2019
29300372Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.Genet Med2018
30311389ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Hum Mutat2018
29300372Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.Genet Med2018
29696744NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.Hum Mutat2018
30311389ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Hum Mutat2018
29696744NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.Hum Mutat2018
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James S Ware
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Roddy Walsh
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Stuart A Cook
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Paul J R Barton
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David Bick
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Francisco M De La Vega
Stanford University School of Medicine
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Declan P O'Regan
Co-authored papers 3
Arjun K Manrai
Co-authored papers 3
Rachel Buchan
Co-authored papers 3
Angharad M Roberts
National Heart and Lung Institute, Imperial College London
Co-authored papers 3
Victoria N Parikh
Stanford University
Co-authored papers 3
Sanjay K Prasad
Co-authored papers 3
Francesco Mazzarotto
Co-authored papers 3
Release 1.2