Author
Royal Adelaide HospitalORCID 0000-0003-2309-2086Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
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.
Monica Hsiung Wojcik, Gabrielle Lemire, Maha Saad Zaki…·Anne O’Donnell‐Luria
This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.
Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen…·Daniel G. MacArthur
Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.