Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

by Dona M. Kanavy, Shannon M. McNulty, Meera K. Jairath, Sarah E. Brnich, Chris Bizon, Bradford C. Powell, Jonathan S. Berg
Published 2019-11-01

RNA-dependent stabilization of SUV39H1 at constitutive heterochromatin

by Whitney L Johnson, William T Yewdell, Jason C Bell, Shannon M McNulty, Zachary Duda, Rachel J O’Neill, Beth A Sullivan, Aaron F Straight
Published 2017-08-01

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

by Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
Published 2019-12-01