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Birgit H Funke

5PUBLICATIONS

19CO-AUTHORS

NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)

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Publications (5)

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|Apr 13, 2026

Whose Role Is It, Anyway? Ensuring Correct Genomic Variant Nomenclature in Published Literature.

Sadeem Qdaisat, Birgit Funke, Heather Mason-Suares

|Nov 17, 2019

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

|Jun 01, 2019

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

|Aug 18, 2016

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Roddy Walsh, Kate L Thomson, James S Ware

|Nov 13, 2015

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

Ahmad N Abou Tayoun, Saeed H Al Turki, Andrea M Oza

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Frequent Collaborators

1 joint publications

Ozlem Senol-Cosar

1 joint publications

Ryan J Schmidt

1 joint publications

Emily Qian

1 joint publications

Derick Hoskinson

1 joint publications

Matthew S Lebo

1 joint publications

Lora J H Bean

1 joint publications

Colleen M Carlston

1 joint publications

Sibel Kantarci

1 joint publications

Heather Mason-Suares

1 joint publications

Ahmad N Abou Tayoun

Frequent Collaborators

1 joint publications

Ozlem Senol-Cosar

1 joint publications

Ryan J Schmidt

1 joint publications

Emily Qian

1 joint publications

Derick Hoskinson

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