Author
Hospital for Sick ChildrenORCID 0009-0005-8010-5308Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Logan Newton, Bushra Haque, David Cheerie…·Gregory Costain
The paper develops a scalable platform for designing exon-skipping ASOs to treat genetic diseases by identifying dispensable exons and validating their therapeutic potential.
Eliza S. Lee, Harrison W. Smith, Yifan E. Wang…·Alexander F. Palazzo
The paper shows that m6A modification facilitates nuclear retention of mRNAs with intact 5' splice site motifs through interactions with YTHDC1/YTHDC2, ZFC3H1, and U1-70K.
Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester…·Seema R. Mital
The paper develops a heart-specific model to predict splice-disrupting variants in childhood heart disease, identifying variants missed by existing tools and showing higher accuracy in cardiac genes.
Ege Sarikaya, Nesrin S Sabha, Jonathan R. Volpatti…·James J. Dowling
The paper conducts a longitudinal study of Mtm1 knockout mice to understand the natural history of X-linked myotubular myopathy, identifying molecular and structural changes preceding and coinciding with disease phenotypes.