Author

Manuel Schiff

Hôpital Necker-Enfants MaladesORCID 0000-0001-8272-232XUnclaimed ORCID profile · follow to get notified of new preprints

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Manuel Schiff1 paper

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Holger ProkischiD· 2 shared Robert KopajtichiD· 2 shared Robert William TayloriD· 2 shared Agnès RötigiD· 1 shared Akira OhtakeiD· 1 shared Albert Zishen LimiD· 1 shared Alessandro ReaiD· 1 shared Alexander J. M. BlakesiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Holger ProkischORCID

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2 papers

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

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJun 21, 2021

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Sarah L. Stenton, Masaru Shimura, Dorota Piekutowska‐Abramczuk…·Holger Prokisch

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

11 citations

humanwhole-exome sequencing

𝕏 PostBluesky