Author

David Manser

Westmead 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· 1

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 Dennis YeowiD· 1 shared Gabor Michael HalmagyiiD· 1 shared Hasindu GamaarachchiiD· 1 shared Igor StevanovskiiD· 1 shared Ira W. DevesoniD· 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