Author
Victor Chang Cardiac Research Institute
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
3 papers
Recent·Most cited
Chek-Ying Tan, Neven Maksemous, Joanne G. Ma…·Chai‐Ann Ng
This paper develops a calibrated functional assay to assess CACNA1A variants, showing it can accurately classify pathogenic and benign variants with high specificity and sensitivity.
Rocio K. Finol‐Urdaneta, Chek-Ying Tan, Neven Maksemous…·Chai Ann Ng
This paper develops a calibrated electrophysiological framework to classify CACNA1G missense variants, identifying two variants as likely pathogenic and others as benign.
Matthew J. O’Neill, Chai‐Ann Ng, Takanori Aizawa…·Brett M. Kroncke
This paper evaluates how functional variant data and penetrance estimates improve risk stratification for LQTS in KCNH2 missense variant carriers.