Author

Johan A Duflou

The University of SydneyORCID 0000-0001-5863-635XUnclaimed 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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Approach:statistical model· 2 Research Focus:benchmarking· 1 Organism:human· 1

Frequent Co-Authors

Jodie InglesiD· 2 shared Laura YeatesiD· 2 shared 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

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jodie InglesORCID

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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 MedicineHeart RhythmPeer-reviewedMar 27, 2021

Global approaches to postmortem genetic testing after sudden cardiac death in the young: A survey among healthcare professionals

Lieke M. van den Heuvel, Judy Do, Laura Yeates…·Jodie Ingles

This study surveys healthcare professionals on postmortem genetic testing practices for sudden cardiac death in young individuals, finding inconsistent access and variability in attitudes across regions.

13 citations

statistical modelbenchmarking

𝕏 PostBluesky