Author

Pak Leng Cheong

The University of SydneyORCID 0000-0002-0095-4459Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Andre L. M. ReisiD· 1 shared Andrew J. MartiniD· 1 shared Andrew P. HannafordiD· 1 shared David Manser· 1 shared Dennis YeowiD· 1 shared Gabor Michael HalmagyiiD· 1 shared Hasindu GamaarachchiiD· 1 shared Igor StevanovskiiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andre L. M. ReisORCID

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1 paper

Recent·Most cited

Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders

Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa C. Worgan, Kate E. Ahmad, Michael Hayes, Andrew P. Hannaford, Samuel Kim, Victor S.C. Fung, Gabor Michael Halmagyi, Andrew J. Martin, , Kishore Raj Kumar

This paper demonstrates that targeted long-read sequencing improves genetic diagnosis of spastic-ataxia disorders by identifying causative variants in 41% of undiagnosed cases using a single assay.

Annals of Clinical and Translational Neurology · Feb 25, 2025Peer-reviewedGenetic & Genomic Medicine