Author

Helen Doyle

Children's Hospital at Westmead

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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

Frequent Co-Authors

Adam T. PiersiD· 1 shared Alexandra ButtersiD· 1 shared Amali C. MallawaarachchiiD· 1 shared Amy BakeriD· 1 shared Carlos C. Smith-DíaziD· 1 shared Cas SimonsiD· 1 shared Claire Margaret LawleyiD· 1 shared Daniel G. MacArthuriD· 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

Adam T. PiersORCID

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Author profile →

1 paper

Recent·Most cited

SECISBP2 Deficiency Causes a Lethal Perinatal Cardiomyopathy

Carlos C. Smith-Díaz, Natasha Henden, Natalie P. Stewart, Samantha J. Bryen, Mark Evan Graham, Claire Margaret Lawley, Alexandra Butters, Adam T. Piers, Amy Baker, David A. Elliott, Ebony Richardson, Edward Formaini, Enzo R. Porrello, Helen Doyle, Igor E. Konstantinov, , 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.

medRxiv · Jul 24, 2026 · PreprintGenetic & Genomic Medicine