Author

Marjola Thanaj

University of WestminsterORCID 0000-0002-1789-7112Unclaimed 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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Organism:human· 3 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell-cell communication· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:imaging· 1

Frequent Co-Authors

Elena P. SorokiniD· 2 shared Afreen NaziD· 1 shared Alaine BerryiD· 1 shared Altayeb AhmediD· 1 shared Anil RajiD· 1 shared Antonio de MarvaoiD· 1 shared Antonis A. PantazisiD· 1 shared Arun John BaksiiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Elena P. SorokinORCID

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3 papers

Recent·Most cited

Ribosomal DNA copy number variation shapes human physiology and disease risk

Anil Raj, Jordan Brown, Nathaniel H. Thayer, Manuel Hotz, Irene Lam, Nicole L. Fong, Elena P. Sorokin, Marjola Thanaj, Daphna Rothschild, Jonathan K. Pritchard, Maria Barna, David G. Hendrickson

The paper analyzes rDNA copy number variation in humans, finding distinct associations with metabolic diseases and growth traits.

medRxiv · Jan 13, 2026 · PreprintGenetic & Genomic Medicine

Scaling genetic discovery for organ volumes using machine learning-assisted imputation and bias-corrected GWAS

Afreen Naz, Brandon J. Whitcher, Altayeb Ahmed, Marjola Thanaj, Elena P. Sorokin, Jimmy David Bell, Elizabeth Louise Thomas, Madeleine Cule, Hanieh Yaghootkar

This paper uses machine learning to impute MRI-derived organ volumes and applies bias-corrected GWAS to identify genetic loci associated with these traits across 450,000 individuals.

medRxiv · Nov 7, 2025 · PreprintGenetic & Genomic Medicine

Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes amongst UK Biobank participants

Antonio de Marvao, Kathryn A. McGurk, Sean Lee Zheng, Marjola Thanaj, Wenjia Bai, Jinming Duan, Carlo Biffi, Francesco Mazzarotto, Ben K. Statton, Timothy J. W. Dawes, Nicoló Savioli, Brian P. Halliday, Xiao Yun Xu, Rachel J. Buchan, Arun John Baksi, , Declan P. O’Regan

This study examines the clinical impact of rare variants in HCM-associated genes in the UK Biobank, finding that pathogenic variants are linked to increased cardiovascular risk and subclinical phenotypes, while non-pathogenic variants show minimal effect.

Journal of the American College of Cardiology · Sep 1, 2021Peer-reviewedGenetic & Genomic Medicine