Author

Eleanor Self

Garvan Institute of Medical Research

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 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Ahmet YeşilyurtiD· 1 shared Amira Nabil· 1 shared Annarita ScardamagliaiD· 1 shared Bader AlhaddadiD· 1 shared Benno Postert· 1 shared Daniel HesselsoniD· 1 shared Daniele Cultrone· 1 shared David P. MurphyiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ahmet YeşilyurtORCID

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2 papers

Recent·Most cited

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

Heba Morsy, Hyeonho Kim, Gyubin Jang, Maha Saad Zaki, Mariasavina Severino, Ibrahim M. Abdelrazek, Haytham Hussien, Eleanor Self, Raidah Albaradie, Khadijah Bakur, Zahra Firoozfar, Stéphanie Efthymiou, Mahmoud M. Noureldeen, Amira Nabil, Javeria Raza Alvi, , Reza Maroofian

This study identifies homozygous loss-of-function MDGA2 variants in individuals with developmental and epileptic encephalopathy, establishing MDGA2 as a novel gene for this condition.

The American Journal of Human Genetics · Jan 21, 2026Peer-reviewedGenetic & Genomic Medicine

A zebrafish functional genomics model to investigate the role of human A20 variants in vivo

Daniele Cultrone, Nathan W. Zammit, Eleanor Self, Benno Postert, Jeremy Z. R. Han, Jacqueline Bailey, Joanna A Warren, David R. Croucher, Kazu Kikuchi, Ozren Bogdanović, Tatyana Chtanova, Daniel Hesselson, Shane T. Grey

This paper uses a zebrafish model to study the in vivo effects of human A20 variants, showing that specific mutations impact A20 function and disease relevance.

Scientific Reports · Nov 5, 2020Peer-reviewedGenetics