Author

Fatemeh Eghbal

St George's, University of LondonORCID 0000-0002-5444-1245Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:long-read sequencing· 1 Assay:proteomics· 1

Frequent Co-Authors

Ehsan Ghayoor KarimianiiD· 2 shared Fowzan Sami AlkurayaiD· 2 shared Henry HouldeniD· 2 shared Reza MaroofianiD· 2 shared Alison M. MaleiD· 1 shared Amir BahreiniiD· 1 shared Ashwani KumariD· 1 shared Aziza K. Chedrawi· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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2 shared papersGenetic & Genomic Medicine

Ehsan Ghayoor KarimianiORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 9, 2024

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

Daniel G. Calame, Jovi Huixin Wong, Puravi Panda…·Long Nam Nguyen

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

3 citations

humanwhole-exome sequencing

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Developmental BiologybioRxivPreprintJan 9, 2024

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders

Chunyang Ni, Leqian Yu, Barbara Vona…·Michael Buszczak

The paper identifies how reduced ribosome levels in neural progenitor cells contribute to neurodevelopmental disorders and shows that mTOR activation can alleviate these defects.

3 citations

humanproteomics

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