Author

Gabor Michael Halmagyi

Royal Prince Alfred HospitalORCID 0000-0002-9743-466XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:gene regulatory network inference· 2 Organism:human· 2 Research Focus:variant calling· 2 Approach:benchmark study· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1

Frequent Co-Authors

Andre L. M. ReisiD· 1 shared Andrew J. MartiniD· 1 shared Andrew Martin ChancelloriD· 1 shared Andrew P. HannafordiD· 1 shared Anna HackettiD· 1 shared Anthony Edward LangiD· 1 shared Brent L. FogeliD· 1 shared David J. AmoriD· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Andre L. M. ReisORCID

Mutual co-authors in cluster

Author profile →

2 papers

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

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedJun 20, 2019

Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett…·Paul J. Lockhart

This study validates new bioinformatic tools to identify expanded repeats, discovering a novel intronic pentamer expansion in RFC1 causing CANVAS.

262 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky