Ebony Richardson

Selected Publications

2022
Genome medicine10.1186/s13073-022-01149-0
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.
Fergus Stafford, Neesha Krishnan, Ebony Richardson, Alexandra Butters, Sophie Hespe, Charlotte Burns, Belinda Gray, Caroline Medi, Natalie Nowak, Julia C Isbister, Hariharan Raju, David Richmond, Mark P Ryan, Emma S Singer, Raymond W Sy, Laura Yeates, Richard D Bagnall, Christopher Semsarian, Jodie Ingles
2022
Genome medicine10.1186/s13073-022-01073-3
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Jamie M Ellingford, Joo Wook Ahn, Richard D Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R FitzPatrick, John M Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C Martin, William G Newman, Anne O'Donnell-Luria, Simon C Ramsden, Heidi L Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C Taylor, Maggie Williams, Jordan C Wood, Caroline F Wright, Steven M Harrison, Nicola Whiffin
2022
American journal of human genetics10.1016/j.ajhg.2022.05.002
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.
Connie Jiang, Ebony Richardson, Jessica Farr, Adam P Hill, Rizwan Ullah, Brett M Kroncke, Steven M Harrison, Kate L Thomson, Jodie Ingles, Jamie I Vandenberg, Chai-Ann Ng