Sami S Amr

发表

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

Birgit Funke, Sivakumar Gowrisankar, Matthew S. Lebo, 2015, Genetics in Medicine.

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.

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

Alex Chapin, Margaret Kenna, Heidi L Rehm, 2018, bioRxiv.

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.