Author
IRCCS Istituto Auxologico ItalianoORCID 0000-0003-0367-1048Unclaimed ORCID profile · follow to get notified of new preprints
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3 papers
Recent·Most cited
Steffan Noe Niikanoff Christiansen, Stine Bøttcher Jacobsen, Jeppe Dyrberg Andersen…·Michael Toft Overgaard
The paper compares the clinical impact of missense variants in CALM1, CALM2, and CALM3 genes by analyzing expression levels and translation efficiency in cardiac tissue.
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.
Matthew J. O’Neill, Luca Sala, Isabelle Denjoy…·Brett M. Kroncke
The paper develops Bayesian models to estimate variant penetrance in Mendelian cardiac channelopathies, revealing continuous penetrance distributions and structural insights.