Author
Sydney Children's HospitalORCID 0000-0002-3653-0412Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
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.
Alexandra Butters, Kate L. Thomson, Francesca Harrington…·Jodie Ingles
The paper reports a rare splice-site variant in TNNT2 found in Oceanian ancestry individuals, highlighting the need for diverse genomic datasets to avoid misclassification of variants.
Lieke M. van den Heuvel, Judy Do, Laura Yeates…·Jodie Ingles
This study surveys healthcare professionals on postmortem genetic testing practices for sudden cardiac death in young individuals, finding inconsistent access and variability in attitudes across regions.