Author

Lachlan S.W. Knight

Flinders UniversityORCID 0000-0002-7633-5486Unclaimed 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

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

Lucas A. Mitchell, Joshua M. Schmidt, Emmanuelle Souzeau, Lachlan S.W. Knight, Giorgina Maxwell, Andrew Dubowsky, Ridia Lim, Edward Formaini, Matthew J. Welland, Cas Simons, Daniel G. MacArthur, Janey L. Wiggs, Jamie E. Craig, 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.

European Journal of Human Genetics · Mar 26, 2026Peer-reviewedGenetic & Genomic Medicine