Author

Monique Elmaleh

Assistance Publique – Hôpitaux de ParisORCID 0000-0001-8190-8202Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:proteomics· 1

Frequent Co-Authors

Abhilasha JakhariD· 1 shared Alessandro ReaiD· 1 shared Alexander J. M. BlakesiD· 1 shared Alexandra AfenjariD· 1 shared Alice GoldenbergiD· 1 shared Alissa M. D’GamaiD· 1 shared Almuth CaliebeiD· 1 shared Amandine SantiniiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abhilasha JakharORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMay 16, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Amandine Santini…·Radu Harbuz

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

57 citationstop 1%

humanwhole-genome sequencing

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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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