Author

Periklis Makrythanasis

National and Kapodistrian University of AthensORCID 0000-0002-3725-0113Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Assay:scRNA-seq· 1

Frequent Co-Authors

Stylianos E. AntonarakisiD· 2 shared Audrey Letourneau· 1 shared Christelle BoreliD· 1 shared Emilie Falconnet· 1 shared Evan E. EichleriD· 1 shared Federico Andrea SantoniiD· 1 shared Francesco Kumara MastrorosaiD· 1 shared Frank G. van SteenbeekiD· 1 shared

Activity by Year

2018-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

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2 shared papersGenomics

Stylianos E. AntonarakisORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 28, 2026

Genetic hallmarks of patients with congenital portosystemic shunts and portopulmonary hypertension: protocol for a multicentre exploratory study

Isabelle Schepens, Julie Wacker, Frederic Pont…·Valérie A. McLin

This paper outlines a protocol to identify genetic variants associated with portopulmonary hypertension in congenital portosystemic shunt patients using whole-genome sequencing and family-based analyses.

DOI 10.64898/2026.10.27.26366476

humanwhole-genome sequencing

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GenomicsbioRxivPreprintSep 6, 2026

Sequence and epigenetic characterization of chromosome 21 centromeres in a family with recurrent Trisomy 21

Francesco Kumara Mastrorosa, Kendra Hoekzema, Marcelo Ayllon…·Evan E. Eichler

The paper characterizes chromosome 21 centromeres in a family with recurrent Trisomy 21, identifying a diffuse hypomethylation pattern linked to maternal age-related risk.

DOI 10.64898/2026.08.31.748295

humanwhole-genome sequencing

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GenomicsbioRxivPreprintSep 23, 2018

Time and space dimensions of gene dosage imbalance of aneuploidies revealed by single cell transcriptomes.

Georgios Stamoulis, Marco Garieri, Periklis Makrythanasis…·Stylianos E. Antonarakis

The paper uses single-cell transcriptomes to analyze gene dosage imbalance in aneuploidies, revealing both temporal and spatial dimensions of gene expression changes in trisomies.

1 citation

humanscRNA-seq

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