Author

Niloofar Chamanrou

Shahid Chamran University of AhvazORCID 0009-0009-6221-8359Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Research Focus:gene regulatory network inference· 3 Organism:human· 3 Approach:statistical model· 3 Approach:experimental assay· 2 Organism:zebrafish· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Reza MaroofianiD· 3 shared Barbara VonaiD· 2 shared Gholamreza ShariatiiD· 2 shared Hamid GalehdariiD· 2 shared Janine ReunertiD· 2 shared Mina ZamaniiD· 2 shared Thorsten MarquardtiD· 2 shared Abolfazl RadiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Reza MaroofianORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 30, 2026

FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss

Daniel Liedtke, K Rak, Katrina M. Schrode…·Barbara Vona

The paper identifies FRMPD4 as a causal gene for X-linked non-syndromic hearing loss through genetic analysis and cross-species functional studies.

DOI 10.64898/2026.03.27.26349271

𝕏 PostBluesky

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedApr 16, 2025

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng…·Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

12 citations

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintOct 4, 2024

Genetic Risk of Axonal Neuropathy Following Infection

J. Robert Harkness, John Henry McDermott, Shea Marsden…·William G. Newman

The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.

DOI 10.1101/2024.10.04.24314535

humanstatistical model

𝕏 PostBluesky