Author

Mohammed O. E. Abdallah

University of KhartoumORCID 0000-0002-5374-0657Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Mahmoud KokoiD· 3 shared Muntaser Eltayeb IbrahimiD· 2 shared Melanie J. NewportiD· 1 shared Mutaz AminiD· 1 shared Raj RamesariD· 1 shared Shima Faisal· 1 shared

Activity by Year

2018-2023 · peak 2/yr

Co-Author Collaboration Network

6 top collaborators · 9 mutual co-author links

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3 shared papersGenomics

Mahmoud KokoORCID

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3 papers

Recent·Most cited

Lost in translation: the pitfalls of Ensembl Gene annotations between human genome assemblies and their impact on diagnostics

Mohammed O. E. Abdallah, Mahmoud Koko, Raj Ramesar

The paper identifies 267 genes reclassified as protein-coding in GRCh38 that were previously labeled as non-protein-coding in GRCh37, highlighting the impact of outdated annotations on variant prioritization and clinical diagnostics.

Expert Review of Molecular Diagnostics · Jul 14, 2023Peer-reviewedGenomics

Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications

Mohammed O. E. Abdallah, Mahmoud Koko, Shima Faisal, Melanie J. Newport, Muntaser Eltayeb Ibrahim

The paper reports a recurrent AIPL1 truncating variant in a Sudanese family with Leber Congenital Amaurosis, supporting its pathogenicity and regional significance.

bioRxiv · Mar 28, 2018 · PreprintGenomics

A bioinformatic panel to interrogate thousands of ExAC variants with minor reference allele that are missed by conventional variant calling

Mahmoud Koko, Mohammed O. E. Abdallah, Mutaz Amin, Muntaser Eltayeb Ibrahim

The paper develops a bioinformatic panel to identify disease-causing variants missed by conventional variant calling in sites with minor reference alleles.

BMC Genomics · Jan 15, 2018Peer-reviewedGenomics