Author

Nadirah S. Damseh

Al-Quds UniversityORCID 0000-0002-2673-7612Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adrian SantanaiD· 1 shared Aldo S. BaderiD· 1 shared Anirban MajumdariD· 1 shared Camilla Berera· 1 shared Cesar AlvesiD· 1 shared Chaya Nautiyal MuraliiD· 1 shared Christopher J. CarnieiD· 1 shared Damian P. SmedleyiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adrian SantanaORCID

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2 papers

Recent·Most cited

GeneticsEMBO Molecular MedicinePeer-reviewedDec 19, 2025

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay

Soren H. Hough, Satpal S. Jhujh, Samah W. Awwad…·Stephen P. Jackson

The paper identifies MAEA as a critical regulator of DNA repair and replication, with loss of function causing developmental delay and neurodevelopmental deficits.

2 citations

humanDNA methylation

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Genetic & Genomic MedicinemedRxivPreprintJan 30, 2023

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

Joseph T.C. Shieh, Jesus A Tintos-Hernández, Chaya Nautiyal Murali…·Xilma Rosa Ortiz-Gonzalez

This study identifies heterozygous FTH1 variants causing a novel pediatric neuroferritinopathy with neuroimaging and neuropathological features, and suggests antisense oligonucleotide therapy.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky