Author

Edward Formaini

Garvan Institute of Medical ResearchORCID 0009-0008-1592-2338Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Cas SimonsiD· 2 shared Daniel G. MacArthuriD· 2 shared Adam T. PiersiD· 1 shared Alexandra ButtersiD· 1 shared Amali C. MallawaarachchiiD· 1 shared Amy BakeriD· 1 shared Andrew DubowskyiD· 1 shared Carlos C. Smith-DíaziD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Cas SimonsORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 24, 2026

SECISBP2 Deficiency Causes a Lethal Perinatal Cardiomyopathy

Carlos C. Smith-Díaz, Natasha Henden, Natalie P. Stewart…·Jodie Ingles

This study identifies a homozygous SECISBP2 variant causing lethal perinatal cardiomyopathy through loss of selenoprotein function, including GPX4, and suggests a ferroptosis mechanism.

DOI 10.64898/2026.07.22.26358709

humanstatistical model

𝕏 PostBluesky

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

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