Author

Maria I. Stamou

Harvard UniversityORCID 0000-0001-5992-2120Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:Bayesian inference· 1 Research Focus:differential expression· 1 Assay:GWAS summary statistics· 1 Research Focus:polygenic risk· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aaron LeongiD· 1 shared Ali Kemal TopalogluiD· 1 shared Amit PatkiiD· 1 shared Atlas KhaniD· 1 shared Ayça AltıncıkiD· 1 shared Ayme D. Miles· 1 shared Bahram NamjouiD· 1 shared Barbara Benoit· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aaron LeongORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintOct 12, 2022

POU6F2 mutation identified in humans with pubertal failure shifts isoform formation and alters GnRH transcript expression

Hyun-Ju Cho, Fatih Gürbüz, Maria I. Stamou…·Ali Kemal Topaloglu

The paper identifies POU6F2 mutations in IHH patients, showing isoform1 regulates GnRH expression and variants disrupt this function, contributing to pubertal failure.

DOI 10.1101/2022.10.12.511883

humanwhole-exome sequencing

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Genetic & Genomic MedicineGenome MedicinePeer-reviewedJun 28, 2022

Validation of a Trans-Ancestry Polygenic Risk Score for Type 2 Diabetes in Diverse Populations

Tian Ge, Marguerite R. Irvin, Amit Patki…·Elizabeth W. Karlson

This paper develops a trans-ancestry polygenic risk score for type 2 diabetes and validates it across diverse populations to improve equitable risk prediction.

173 citationstop 1%

humanGWAS summary statistics

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