Author

C S Beck

Victorian Clinical Genetics Services

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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:proteomics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alison G. ComptoniD· 1 shared Amanda Samarasinghe· 1 shared Anand VasudevaniD· 1 shared Boris ReljićiD· 1 shared Bryony RyderiD· 1 shared Chantal AttardiD· 1 shared Daniella Helena HockiD· 1 shared David A. StroudiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alison G. ComptonORCID

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1 paper

Recent·Most cited

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