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Birgit Funke

Showing results (31-40 of 56) with videos related to

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American Journal of Medical Genetics. Part A|December 28, 2018
Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlationsTova Hershkovitz, Alina Kurolap, Noa Ruhrman-Shahar, et al.
Journal of Genetic Counseling|January 4, 2023
Elective genomic testing: Practice resource of the National Society of Genetic CounselorsCarrie L Blout Zawatsky, David Bick, Louise Bier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2017
Using high-resolution variant frequencies to empower clinical genome interpretationNicola Whiffin, Eric Minikel, Roddy Walsh, et al.
Human Molecular Genetics|July 21, 2009
Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in miceGo Suzuki, Kathryn M Harper, Takeshi Hiramoto, et al.
The Journal of Molecular Diagnostics : JMD|January 25, 2022
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards InstituteMarco L Leung, Jianling Ji, Samuel Baker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 27, 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)Honey V Reddi, Hannah Wand, Birgit Funke, et al.
Archives of Pathology & Laboratory Medicine|October 18, 2023
Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence VariantsKaren D Tsuchiya, Birgit Funke, Madhuri Hegde, et al.
The Journal of Molecular Diagnostics : JMD|August 22, 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 TestsSomak Roy, Martine W Tremblay, Edward Lockhart, et al.
Journal of the American College of Cardiology|February 2, 2010
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathyNeal K Lakdawala, Lisa Dellefave, Charles S Redwood, et al.
European Heart Journal|January 14, 2017
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genesRoddy Walsh, Rachel Buchan, Alicja Wilk, et al.
Pageof 6

Showing results (31-40 of 56) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|December 28, 2018
Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlationsTova Hershkovitz, Alina Kurolap, Noa Ruhrman-Shahar, et al.
Journal of Genetic Counseling|January 4, 2023
Elective genomic testing: Practice resource of the National Society of Genetic CounselorsCarrie L Blout Zawatsky, David Bick, Louise Bier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2017
Using high-resolution variant frequencies to empower clinical genome interpretationNicola Whiffin, Eric Minikel, Roddy Walsh, et al.
Human Molecular Genetics|July 21, 2009
Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in miceGo Suzuki, Kathryn M Harper, Takeshi Hiramoto, et al.
The Journal of Molecular Diagnostics : JMD|January 25, 2022
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards InstituteMarco L Leung, Jianling Ji, Samuel Baker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 27, 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)Honey V Reddi, Hannah Wand, Birgit Funke, et al.
Archives of Pathology & Laboratory Medicine|October 18, 2023
Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence VariantsKaren D Tsuchiya, Birgit Funke, Madhuri Hegde, et al.
The Journal of Molecular Diagnostics : JMD|August 22, 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 TestsSomak Roy, Martine W Tremblay, Edward Lockhart, et al.
Journal of the American College of Cardiology|February 2, 2010
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathyNeal K Lakdawala, Lisa Dellefave, Charles S Redwood, et al.
European Heart Journal|January 14, 2017
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genesRoddy Walsh, Rachel Buchan, Alicja Wilk, et al.
Pageof 6