Author

Rajaa Fathallah

National Center for Diabetes, Endocrinology and Genetic DiseasesORCID 0009-0003-1769-3675Unclaimed 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 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1 Organism:zebrafish· 1

Frequent Co-Authors

Bruno ReversadeiD· 2 shared Carine BonnardiD· 2 shared Mohammad ShbouliD· 2 shared Ain Nur Ali· 1 shared Ajay Sriram MathuruiD· 1 shared Alaa Arafat· 1 shared Alex N. BullockiD· 1 shared Alvin Yu Jin NgiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bruno ReversadeORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 23, 2024

Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis

Carine Bonnard, Ain Nur Ali, Yuan Fang…·Bruno Reversade

This study shows that loss of IVNS1ABP causes a progeroid neuropathy by impairing proteostasis, leading to protein aggregation and lysosomal dysfunction in neuronal cells.

2 citations

humanzebrafish

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Genetic & Genomic MedicinemedRxivPreprintJul 15, 2022

Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing

Nasrinsadat Nabavizadeh, Annkatrin Bressin, Poh Hui Chia…·Bruno Reversade

The paper identifies a deep intronic TAPT1 mutation causing progeroid syndrome using RNA-seq and homozygosity mapping, showing it leads to exon skipping and protein-null allele.

DOI 10.1101/2022.07.15.22276800

humanbulk RNA-seq

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