Steven M. Harrison

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, 2020, npj Genomic Medicine.

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Steven E. Brenner, Xi Luo, Lea M. Starita, 2019, Genome Medicine.

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Lea M. Starita, Fergus J. Couch, Jonathan S. Berg, 2019, Genome Medicine.

Recommendations for Interpreting the Loss of Function PVS1 ACMG/AMP Variant Criteria

Heidi L. Rehm, Leslie G. Biesecker, Steven M. Harrison, 2018, bioRxiv.