Author

Ridia Lim

ORCID 0000-0002-1334-6882Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrew DubowskyiD· 1 shared Cas SimonsiD· 1 shared Daniel G. MacArthuriD· 1 shared Edward FormainiiD· 1 shared Emmanuelle SouzeauiD· 1 shared Giorgina MaxwelliD· 1 shared Jamie E. CraigiD· 1 shared Janey L. WiggsiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrew DubowskyORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedMar 26, 2026

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus

Lucas A. Mitchell, Joshua M. Schmidt, Emmanuelle Souzeau…·Owen M. Siggs

The paper identifies two non-coding structural variants associated with Axenfeld-Rieger Syndrome, showing how enhancer disruption can cause disease without affecting the PITX2 gene itself.

3 citationstop 1%

humanwhole-genome sequencing