Author

Mais O Hashem

Alfaisal 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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Molecular Biology· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Fowzan Sami AlkurayaiD· 2 shared Ahlam A. Hamed· 1 shared Binnaz YalciniD· 1 shared Bruno RinaldiiD· 1 shared Carlos M. A. GuardiaiD· 1 shared Christopher T. PrevostiD· 1 shared Dragony FuiD· 1 shared Efil BayamiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersNeuroscience

Fowzan Sami AlkurayaORCID

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2 papers

Recent·Most cited

Bi-allelic variants in WDR47 lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans.

Efil Bayam, Peggy Tilly, Stephan C. Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Elena Brivio, Bruno Rinaldi, Romain Lecat, Noémie Schwaller, Ludovica Cotellessa, Sateesh Maddirevula, Fabíola Paoli Monteiro, Carlos M. A. Guardia, João Paulo Kitajima, , Juliette D. Godin

The paper identifies bi-allelic WDR47 variants as a cause of a neurodevelopmental syndrome with corpus callosum dysgenesis and associated neuroanatomical abnormalities.

EMBO Molecular Medicine · Nov 28, 2024Peer-reviewedNeuroscience

A missense variant impairing TRMT1 function in tRNA modification is linked to intellectual disability

Kejia Zhang, Jenna M. Lentini, Christopher T. Prevost, Mais O Hashem, Fowzan Sami Alkuraya, Dragony Fu

This study identifies a missense variant in TRMT1 causing intellectual disability by disrupting tRNA m2,2G modification.

bioRxiv · Oct 24, 2019 · PreprintMolecular Biology