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1
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

von Roy, Somak ; Tremblay, Martine W. ; Lockhart, Edward ; et al.

In The Journal of Molecular Diagnostics July 2025
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2
Genetic sex validation for sample tracking in next-generation sequencing clinical testing

von Hu, Jianhong ; Korchina, Viktoriya ; Zouk, Hana ; et al.

BMC Research Notes. 17(1)
- Zum Volltext in PubMed Central
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3
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

von SoRelle, Jeffrey A. ; Funke, Birgit H. ; Eno, Celeste C. ; et al.

In The Journal of Molecular Diagnostics March 2024 26(3):159-167
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4
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

von Deignan, Joshua L. ; Aggarwal, Vimla ; Bale, Allen E. ; et al.

In Genetics in Medicine Open 2024 2
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5
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- Zur Referenz in Web of Science
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6
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

von McGurk, Kathryn A. ; Zhang, Xiaolei ; Theotokis, Pantazis ; et al.

In The American Journal of Human Genetics 7 September 2023 110(9):1482-1495
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7
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)

von Reddi, Honey V. ; Wand, Hannah ; Funke, Birgit ; et al.

In Genetics in Medicine May 2023 25(5)
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8
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute

von Leung, Marco L. ; Ji, Jianling ; Baker, Samuel ; et al.

In The Journal of Molecular Diagnostics February 2022 24(2):177-188
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9
P677: Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen’s Cardiomyopathy Variant Curation Expert Panel

von Kelly, Melissa ; Zouk, Hana ; Ware, James ; et al.

Genetics in Medicine Open ; volume 2, page 101581 ; ISSN 2949-7744
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10
Toward Proactive “Sequence-First” Risk Prediction for Inherited Cardiomyopathies

von Jurgens, Sean J. ; Funke, Birgit ; Nederlandse Hartstichting

JACC: Heart Failure ; volume 12, issue 5, page 933-935 ; ISSN 2213-1779
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11
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project

von Wilcox, Emma ; Harrison, Steven M. ; Lockhart, Edward ; et al.

In The Journal of Molecular Diagnostics November 2021 23(11):1500-1505
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12
Neptune: an environment for the delivery of genomic medicine

von Eric, Venner ; Yi, Victoria ; Murdock, David ; et al.

In Genetics in Medicine October 2021 23(10):1838-1846
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13
The genetic architecture of Plakophilin 2 cardiomyopathy

von Dries, Annika M. ; Kirillova, Anna ; Reuter, Chloe M. ; et al.

In Genetics in Medicine October 2021 23(10):1961-1968
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14
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

von Mazzarotto, Francesco ; Hawley, Megan H. ; Beltrami, Matteo ; et al.

In Genetics in Medicine May 2021 23(5):856-864
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15
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

von Morales, Ana ; Ing, Alexander ; Antolik, Christian ; et al.

In The Journal of Molecular Diagnostics May 2021 23(5):589-598
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16
Frequency of genomic secondary findings among 21,915 eMERGE network participants

von Gordon, Adam S. ; Zouk, Hana ; Venner, Eric ; et al.

In Genetics in Medicine September 2020 22(9):1470-1477
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17
Design and Reporting Considerations for Genetic Screening Tests

von Hagenkord, Jill ; Funke, Birgit ; Qian, Emily ; et al.

In The Journal of Molecular Diagnostics May 2020 22(5):599-609
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18
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

von McGurk, Kathryn A ; Zhang, Xiaolei ; Theotokis, Pantazis ; et al.

Schlagworte: cardiomyopathy; penetrance; prevalence; secondary findings; Female; Male; Humans; Adult; Cardiomyopathies; Hypertrophic; Dilated; Gene Frequency
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19
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

von Bean, Lora ; Funke, Birgit ; Carlston, Colleen M. ; et al.

In Genetics in Medicine March 2020 22(3):453-461
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20
Elective genomic testing: Practice resource of the National Society of Genetic Counselors

von Blout Zawatsky, Carrie L. ; Bick, David ; Bier, Louise ; et al.

Journal of Genetic Counseling ; volume 32, issue 2, page 281-299 ; ISSN 1059-7700 1573-3599
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21
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

von Senol-Cosar, Ozlem ; Schmidt, Ryan J. ; Qian, Emily ; et al.

In Genetics in Medicine December 2019 21(12):2765-2773
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22
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

von Zouk, Hana ; Venner, Eric ; Lennon, Niall J. ; et al.

In The American Journal of Human Genetics 5 September 2019 105(3):588-605
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23
Validation and implementation of whole-exome sequencing bioinformatics processes for clinical applications

von Shakhbatyan, Rimma ; Sharma, Himanshu ; Tsai, Ellen ; et al.

Proceedings of the 5th ACM Conference on Bioinformatics, Computational Biology, and Health Informatics. :596-597
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24
Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories

von Santani, Avni ; Simen, Birgitte B. ; Briggs, Marian ; et al.

In The Journal of Molecular Diagnostics May 2019 21(3):369-374
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25
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

von Milko, Laura V. ; Funke, Birgit H. ; Hershberger, Ray E. ; et al.

In Genetics in Medicine April 2019 21(4):987-993
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