Author
Garvan Institute of Medical Research
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Alexander O. Ward, Nicole Schönrock, Alex J. McCann…·Richard Paul Harvey
The paper investigates NKX2-5 mutations in congenital heart disease by analyzing their epigenomic, biochemical, and chromatin search functions in cardiomyocytes, revealing diverse loss and gain-of-function defects.
André E. Minoche, Ben Lundie, Greg B. Peters…·Mark J. Cowley
ClinSV detects structural and copy number variants from whole genome sequencing data with high sensitivity and low false positive rates, outperforming clinical microarrays in identifying reportable variants.
Nicky Jonkhout, Sonia Cruciani, Helaine Graziele Santos Vieira…·Eva Maria Novoa
The paper investigates the subcellular relocalization of TRMT1 and TRMT1L during neuronal activation and identifies their role in RNA modification dynamics and neuronal plasticity.