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Edward Formaini

Edward Formaini

Role: Senior Computational Scientist

Selected publications

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2026
European Journal of Human Genetics : EJHG10.1038/s41431-026-02086-x
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.
Lucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, Lachlan S W Knight, Giorgina Maxwell, Andrew Dubowsky, Ridia Lim, Edward Formaini, Matthew Welland, Cas Simons, Daniel G MacArthur, Janey L Wiggs, Jamie E Craig, Owen M Siggs
2025
MedRxiv : The Preprint Server for Health Sciences10.1101/2025.06.05.25327661
Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating from a conserved enhancer locus.
Lucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, Lachlan S W Knight, Giorgina Maxwell, Andrew Dubowsky, Ridia Lim, Edward Formaini, Matthew Welland, Cas Simons, Daniel G MacArthur, Janey L Wiggs, Jamie E Craig, Owen M Siggs

See all Garvan publications