Birgit H Funke

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Good laboratory practice for clinical next-generation sequencing informatics pipelines

Shashikant Kulkarni, Pavel Skums, David S. Campo, 2015, Nature Biotechnology.

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

Heidi L Rehm, Ahmad N Abou Tayoun, Birgit H Funke, 2015, Genetics in Medicine.

Genetic Misdiagnoses and the Potential for Health Disparities.

Peter Szolovits, Joseph Loscalzo, Isaac S Kohane, 2016, The New England journal of medicine.

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

Sivakumar Gowrisankar, Heidi L Rehm, Birgit H Funke, 2014, The Journal of molecular diagnostics : JMD.

Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.

Sivakumar Gowrisankar, Megan Manion, Heidi L Rehm, 2010, The Journal of molecular diagnostics : JMD.

Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.

Birgit H Funke, Catherine Huang, Russell Garlick, 2016, The Journal of molecular diagnostics : JMD.

The GeneInsight suite: a platform to support laboratory and provider use of DNA‐based genetic testing

Elaine Lyon, Heidi L Rehm, Birgit H Funke, 2011, Human mutation.

Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.

Heidi L Rehm, Birgit H Funke, H. Rehm, 2013, The Journal of molecular diagnostics : JMD.