Author
Murdoch Children's Research InstituteORCID 0000-0002-2304-3834Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Tara K Lane, Timothy E. Green, Denisse Garza…·Michael S. Hildebrand
The paper evaluates ddPCR as a primary diagnostic tool for vascular anomalies, finding it detects 51% of pathogenic variants in a cohort, with an overall diagnostic yield of 75% when combined with NGS.
Carlos A. Dominguez Gonzalez, Katrina M. Bell, Ramakrishnan Rajagopalan…·Danny E. Miller
The paper identifies a common intronic SVA_E insertion in ASPA as the most frequent pathogenic variant in Canavan disease using long-read sequencing.
Rocío Rius, Alison G. Compton, Naomi L. Baker…·David Ross Thorburn
The paper evaluates the diagnostic effectiveness of genomic sequencing in mitochondrial diseases using blood samples, finding a 55% diagnostic yield with higher rates in pediatric cases.