Author

Andrew J. Martin

Westmead HospitalORCID 0000-0002-9198-7511Unclaimed 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 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 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

Genetic & Genomic MedicineAnnals of Clinical and Translational NeurologyPeer-reviewedFeb 25, 2025

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

Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow…·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.

13 citationstop 4%

humanlong-read sequencing

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