Author

Amir Jahić

Charité – Universitätsmedizin BerlinORCID 0000-0001-8318-0147Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

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 Anju ShuklaiD· 1 shared Christian BeetziD· 1 shared DDD Study· 1 shared Emma M. JenkinsoniD· 1 shared Gerard S. ConwayiD· 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

Genetic & Genomic MedicinemedRxivPreprintAug 19, 2024

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…·William G. Newman

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

2 citations

humanproteomics

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