Author

Maria Xenophontos

Cyprus Institute of Neurology and GeneticsORCID 0000-0001-5978-0193Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:cell-cell communication· 1 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1

Frequent Co-Authors

Coralea StephanouiD· 2 shared Petros KountourisiD· 2 shared Andrea C. KakouriiD· 1 shared Anna MinaidouiD· 1 shared Bin Alwi ZilfaliliD· 1 shared Brian HendrichiD· 1 shared Carsten Werner LedereriD· 1 shared Celeste BentoiD· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetics

Coralea StephanouORCID

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3 papers

Recent·Most cited

GeneticsbioRxivPreprintSep 19, 2026

Analyzing globin gene variation in gnomAD: implications for variant interpretation in hemoglobinopathies

Mikaella Kontopoulou, Maria Xenophontos, Carsten Werner Lederer…·Petros Kountouris

The paper assesses changes in globin gene variant population evidence between gnomAD v2.1.1 and v4.1, showing increased variant discovery and improved ACMG/AMP criterion fulfillment.

DOI 10.64898/2026.09.14.750622

humanwhole-exome sequencing

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BioinformaticseLifePeer-reviewedDec 1, 2022

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies

Stella Tamana, Maria Xenophontos, Anna Minaidou…·Petros Kountouris

This study evaluates 31 in silico predictors for variants in HBA1, HBA2, and HBB, finding CADD, Eigen-PC, and REVEL as top performers for pathogenicity prediction.

15 citations

humanGWAS summary statistics

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Molecular BiologybioRxivPreprintJan 25, 2017

The Nucleosome Remodelling and Deacetylation complex restricts Mediator access to enhancers to control transcription

Maria Xenophontos, Nicola Reynolds, Sarah Gharbi…·Brian Hendrich

This study shows the NuRD complex regulates enhancer chromatin structure and Mediator access to control transcription during lineage commitment in ES cells.

1 citation

mouseChIP-seq

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