Author

Joy Lee

Royal Children's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alison G. ComptoniD· 2 shared Daniella Helena HockiD· 2 shared David A. StroudiD· 2 shared David Ross ThorburniD· 2 shared John ChristodoulouiD· 2 shared Leah E. FrajmaniD· 2 shared Mathew WallisiD· 2 shared Michael T. RyaniD· 2 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alison G. ComptonORCID

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2 papers

Recent·Most cited

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses

Rocío Rius, Alison G. Compton, Naomi L. Baker, Shanti Balasubramaniam, Stephanie Best, Kaustuv Bhattacharya, Kirsten Boggs, Tiffany F. Boughtwood, Jeffrey Braithwaite, Drago Bratkovic, Alessandra Bray, Marie‐Jo Brion, Jo Burke, Sarah Casauria, Belinda Chong, , 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.

Genetics in Medicine · Sep 19, 2024Peer-reviewedGenetic & Genomic Medicine

Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases

Daniella Helena Hock, Nikeisha J. Caruana, Liana N. Semcesen, Nicole J. Lake, Luke E. Formosa, Sumudu S. C. Amarasekera, Tegan L. Stait, Simone Tregoning, Leah E. Frajman, David R. L. Robinson, Megan Ball, Boris Reljić, Bryony Ryder, Mathew Wallis, Anand Vasudevan, , David A. Stroud

This study uses untargeted proteomics to rapidly prioritize genetic variants in mitochondrial and other rare diseases, achieving functional evidence for 83% of cases in a cohort.

medRxiv · Aug 6, 2024 · PreprintGenetic & Genomic Medicine