Author

Amira Nabil

Alexandria University

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:imaging· 1

Frequent Co-Authors

Ibrahim M. AbdelrazekiD· 2 shared Agustí Rodríguez‐PalmeroiD· 1 shared Ahmet YeşilyurtiD· 1 shared Alessandro Mauro SpinelliiD· 1 shared Alexander HustinxiD· 1 shared Alexej KnausiD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared Amal Mohamed· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ibrahim M. AbdelrazekORCID

Mutual co-authors in cluster

Author profile →

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

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine J. Marchi, Pilar Caro, Ibrahim M. Abdelrazek, Jean Tori Pantel, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, , Miray Karakoyun

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

medRxiv · Jun 6, 2023 · PreprintGenetic & Genomic Medicine