Author
Garvan Institute of Medical ResearchORCID 0000-0001-7778-805XUnclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Jacob E. Munro, Harshini Thiyagarajah, Mark F. Bennett…·Michael S. Hildebrand
Genome sequencing improves diagnostic yield for developmental and epileptic encephalopathies by identifying structural and non-coding variants missed by exome or gene panel testing.
Lital Cohen-Vig, Jacob E. Munro, Joshua Reid…·Samuel Frank Berkovic
The paper reports a novel complex structural variant at the FBRSL1 locus causing a dominant-negative mechanism, leading to a severe developmental and epileptic encephalopathy in a patient with additional congenital abnormalities.
Sandeep Kaur, Neblina Sikta, Andrea Schafferhans…·Sean I O’Donoghue
The paper presents a streamlined system for integrating 3D protein structures into variant analysis, enabling easy variant specification and access to structural insights.
Sean I O’Donoghue, Andrea Schafferhans, Neblina Sikta…·Burkhard Rost
The paper generates 872 structural models of SARS-CoV-2 proteins and creates a structural coverage map to help researchers understand viral mechanisms and immune disruption.