Author

Ariella Amar

King's College London

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alessandro MoreaiD· 2 shared Amy L. RobertsiD· 2 shared Claire Joanne StevesiD· 2 shared Kerrin S. SmalliD· 2 shared Timothy James VyseiD· 2 shared Alexandros OnoufriadisiD· 1 shared Antonino ZitoiD· 1 shared Antreas Katsiamides· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 23 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alessandro MoreaORCID

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Author profile →

3 papers

Recent·Most cited

Diminished sex hormone levels influence the risk of skewed X chromosome inactivation

Amy L. Roberts, Marc F. Österdahl, Aparajita Sahoo, Joseph Pickles, Christopher Franklin-Cheung, Samuel Wadge, Nawal A Mohamoud, Alessandro Morea, Ariella Amar, David Lester Morris, Timothy James Vyse, Claire Joanne Steves, Kerrin S. Small

The paper investigates the association between menopause and XCI-skew in females, finding early surgical menopause and low testosterone polygenic scores increase XCI-skew risk.

medRxiv · Apr 22, 2026 · PreprintGenetic & Genomic Medicine

Age acquired skewed X Chromosome Inactivation is associated with adverse health outcomes in humans

Amy L. Roberts, Alessandro Morea, Ariella Amar, Antonino Zito, Julia S. El-Sayed Moustafa, Max Tomlinson, Ruth C. E. Bowyer, Xinyuan Zhang, Colette Christiansen, Ricardo Costeira, Claire Joanne Steves, Massimo Mangino, Jordana T. Bell, Chloe C. Y. Wong, Timothy James Vyse, Kerrin S. Small

This study shows that age-related skewed X chromosome inactivation in females is linked to increased cardiovascular disease risk and cancer incidence.

eLife · Nov 1, 2022Peer-reviewedGenetic & Genomic Medicine

Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis.

Alexandros Onoufriadis, Kristina L. Stone, Antreas Katsiamides, Ariella Amar, Yasmin Omar, Katrina M. de Lange, Kirstin M. Taylor, Jeffrey C. Barrett, Richard Pollok, Bu Hayee, John C. Mansfield, Jeremy David Sanderson, Michael A. Simpson, Christopher George Mathew, Natalie J. Prescott

The paper identifies a rare variant in the NLRP7 gene associated with increased risk of ulcerative colitis through exome sequencing and genotyping in IBD families and cohorts.

Journal of Crohn s and Colitis · Dec 1, 2017Peer-reviewedGenetics