Author

Hatem Azzouz

Hôpital La RabtaORCID 0000-0002-6674-3582Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alessandro ReaiD· 1 shared Alexander J. M. BlakesiD· 1 shared Amel Ben ChehidaiD· 1 shared Amir JahićiD· 1 shared Anju ShuklaiD· 1 shared Christian BeetziD· 1 shared DDD Study· 1 shared Emma M. JenkinsoniD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alessandro ReaORCID

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1 paper

Recent·Most cited

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

Thomas B. Smith, Robert Kopajtich, Leigh A. M. Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff, Christian Beetz, Shelagh Joss, Gerard S. Conway, Anju Shukla, Mayuri Yeole, Periyasamy Radhakrishnan, Hatem Azzouz, Amel Ben Chehida, Monique Elmaleh, , William G. Newman

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

medRxiv · Aug 19, 2024 · PreprintGenetic & Genomic Medicine