Author

Maria Karaleftheri

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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Genetics· 2 Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:GWAS / association mapping· 2 Assay:GWAS summary statistics· 2 Assay:whole-genome sequencing· 2 Research Focus:fine-mapping· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Arthur GillyiD· 4 shared Eleftheria ZegginiiD· 4 shared Emmanouil Tsafantakis· 4 shared George V. DedoussisiD· 4 shared Grace PngiD· 3 shared Dániel SüvegesiD· 2 shared Lorraine SouthamiD· 2 shared Young‐Chan ParkiD· 2 shared

Activity by Year

2019-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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4 shared papersGenetics

Arthur GillyORCID

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Author profile →

4 papers

Recent·Most cited

Genetic mechanisms of 184 neuro-related proteins in human plasma

Linda Repetto, Jiantao Chen, Zhijian Yang, Ranran Zhai, Paul R. H. J. Timmers, Xiao Feng, Ting Li, Yue Yao, Denis E. Maslov, Anna N. Timoshchuk, Fengyu Tu, Emma L. Twait, Sebastian May-Wilson, Marisa D. Muckian, Bram Peter Prins, , Xia Shen

The paper identifies genetic regulators of 184 neuro-related proteins in human plasma and links them to disease traits and drug targets.

Nature Human Behaviour · Aug 29, 2024Peer-reviewedGenetic & Genomic Medicine

Whole genome sequencing analysis of the cardiometabolic proteome

Arthur Gilly, Young‐Chan Park, Grace Png, Andrei Barysenka, Iris Fischer, Thea Bjørnland, Lorraine Southam, Dániel Süveges, Sonja Neumeyer, Nigel William Rayner, Emmanouil Tsafantakis, Maria Karaleftheri, George V. Dedoussis, Eleftheria Zeggini

The paper uses whole-genome sequencing to analyze the genetic architecture of 257 cardiometabolic protein biomarkers, identifying 131 sequence variant associations and constructing polygenic scores that explain up to 45% of protein variation.

Nature Communications · Dec 10, 2020Peer-reviewedGenetics

The transferability of lipid loci across African, Asian and European cohorts

Karoline B. Kuchenbaecker, Nikita Telkar, Theresa Reiker, Robin G. Walters, Kuang Lin, Anders Eriksson, Deepti Gurdasani, Arthur Gilly, Lorraine Southam, Emmanouil Tsafantakis, Maria Karaleftheri, Janet Seeley, Anatoli Kamali, Gershim Asiki, Iona Y. Millwood, , Dieter Wolke C

This study assesses the transferability of lipid loci across African, Asian, and European populations, finding high consistency but also population-specific variations.

Nature Communications · Sep 24, 2019Peer-reviewedGenetics

Population-wide copy number variation calling using variant call format files from 6,898 individuals

Grace Png, Dániel Süveges, Young‐Chan Park, Klaudia Walter, Kousik Kundu, Ιωάννα Ντάλλα, Emmanouil Tsafantakis, Maria Karaleftheri, George V. Dedoussis, Eleftheria Zeggini, Arthur Gilly

This paper calls copy number variants from whole-genome sequencing data of 6,898 individuals using a regression tree-based method, identifying 1,320 CNVs and their potential clinical impact.

Genetic Epidemiology · Sep 14, 2019Peer-reviewedBioinformatics