Author

Iman Sabri Abumansour

Umm al-Qura UniversityORCID 0000-0002-9938-4918Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Abolfazl RadiD· 2 shared Bertrand IsidoriD· 2 shared Gabriela E. OpreaiD· 2 shared Henry HouldeniD· 2 shared Reza MaroofianiD· 2 shared Agnese LodaiD· 1 shared Alihossein Sabri· 1 shared Alireza SedaghatiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Abolfazl RadORCID

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2 papers

Recent·Most cited

CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE

Thomas Besnard, Agnese Loda, Emma Kneuss, Laura Do Souto, Frédéric Ebstein, Virginie Vignard, Wallid Deb, Sébastien Küry, Meriem M Derradji-Costea, Gaëlle Landeau‐Trottier, Patricia Talarmain, Eva Trochu, Valeria Leonor Dután Patiño, Amélie Piton, Jean-Baptiste Lamouche, , Bertrand Isidor

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

medRxiv · Dec 20, 2025 · PreprintGenetic & Genomic Medicine

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang, Rauan B. Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang, Cassidy Petree, , Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

The American Journal of Human Genetics · Apr 16, 2025Peer-reviewedGenetic & Genomic Medicine