Author

Mariam Eldesouky

Mohammed Bin Rashid University of Medicine and Health Sciences

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

Biology Disciplines

Click to filter author papers

Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 2 Approach:Bayesian inference· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:long-read sequencing· 1 Assay:scRNA-seq· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Bakhrom K. BerdieviD· 2 shared Mohammed J. UddiniD· 2 shared Nasna NassiriD· 2 shared Aswathy VijayakumariD· 1 shared Binte ZehraiD· 1 shared Dia AdvaniiD· 1 shared Hosneara AkteriD· 1 shared Inna Aleksandrova· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetics

Bakhrom K. BerdievORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Isoform-Resolved Genetic Architecture of Epilepsy and SUDEP Reveals Divergent Brain and Heart Channelopathy Signatures

Binte Zehra, Shuhd Bineshaq, Muhammad Faizan, Mariam Eldesouky, Nidhina Vinod, Nesrin Mohamed, Aswathy Vijayakumar, Inna Aleksandrova, Richa Tambi, Solima Sabeel, Dia Advani, Md Amiruddin Hashmi, S. K. Al-Shaibani, Mohamed A. Almarri, Nasna Nassir, , Bakhrom K. Berdiev

The paper identifies tissue- and isoform-level genetic regulation differences between epilepsy and SUDEP, revealing distinct cardiac and neuronal gene expression patterns.

bioRxiv · Apr 3, 2026 · PreprintGenetics

Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis

Mariam Eldesouky, Suhana Shiyas, Md. Amirul Islam, Md. Nahid Hasan, Md. Tanvir Hossaın, Hosneara Akter, Md. Saiful, Bakhrom K. Berdiev, Wolfgang Michael Kuebler, Proton Rahman, Marc Woodbury‐Smith, Syed M. Hasan, Mohammed J. Uddin, Nasna Nassir

The paper evaluates the Horizon model, a CNV classification tool aligned with ACMG guidelines, showing high accuracy in pathogenicity prediction across multiple datasets.

Human Genetics · Feb 19, 2026Peer-reviewedGenomics