Author

Ayman W. El‐Hattab

University of SharjahORCID 0000-0002-5737-5271Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Organism:yeast· 1

Frequent Co-Authors

Abdulaziz Al Saman· 1 shared Ahmad N. Abou TayouniD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Aimée M. DudleyiD· 1 shared Aisha Al ShamsiiD· 1 shared Alan TayloriD· 1 shared Alawi A.A. Alsheikh-AliiD· 1 shared Almundher A. Al-MaawaliiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abdulaziz Al Saman

Mutual co-authors in cluster

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2 papers

Recent·Most cited

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

Navin B. Ramakrishna, Yoshikazu Johmura, Nur Ain Ali, Umar Bin Mohamad Sahari, Malak Ali Alghamdi, Peter Bauer, Suliman Khan, Natalia Ordoñez, Mariana Ferreira, Jorge Pinto Basto, Fowzan Sami Alkuraya, Eissa Faqeih, Mari Mori, Naif A. M. Almontashiri, Aisha Al Shamsi, , Ahmad N. Abou Tayoun

This study identifies FBXO22 deficiency as a cause of a pleiotropic syndrome with growth restriction and neurodevelopmental delay, linked to an epigenetic signature involving histone demethylase KDM4B.

medRxiv · Sep 28, 2024 · PreprintGenetic & Genomic Medicine

Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps

Michael J. Xie, Gareth A. Cromie, Katherine L. Owens, Martin S. Timour, Michelle Tang, J. Nathan Kutz, Ayman W. El‐Hattab, Richard N. McLaughlin, Aimée M. Dudley

The paper predicts the functional effect of compound heterozygous genotypes using a yeast-based assay and a linear model applied to variant effect maps.

PLoS Genetics · Oct 9, 2023Peer-reviewedGenetics