Author

Mustafa Abdalla M Salih

King Abdulaziz City for Science and TechnologyORCID 0000-0002-4379-2111Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

A. Gulhan Ercan‐SencicekiD· 1 shared Ahlam A. Hamed· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Alice S. BrooksiD· 1 shared Amber Hogart BegtrupiD· 1 shared Amna Mohammed Al-FutaisiiD· 1 shared Anita Nikoncuk· 1 shared Atieh EslahiiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

A. Gulhan Ercan‐SencicekORCID

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2 papers

Recent·Most cited

NeuroscienceEMBO Molecular MedicinePeer-reviewedNov 28, 2024

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…·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.

2 citations

humanexperimental assay

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GeneticsActa NeuropathologicaPeer-reviewedDec 9, 2019

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi…·Tahsin Stefan Barakat

The paper identifies a recurrent start codon mutation in UGP2 causing a severe epileptic encephalopathy, showing that isoform-specific expression loss of an essential gene can lead to disease.

70 citationstop 3%

humanzebrafish

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