Author

Bart C.J.M. Fauser

University Medical Center UtrechtORCID 0000-0002-3865-4371Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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

Signature Assays, Organisms & Methods

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Research Focus:GWAS / association mapping· 3 Organism:human· 3 Approach:statistical model· 3 Assay:electronic health records· 1 Assay:GWAS summary statistics· 1 Assay:proteomics· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

André Gerardus UitterlindeniD· 3 shared Andrea Elizabeth DunaifiD· 3 shared Andres SalumetsiD· 3 shared Barbara Maria Obermayer-PietschiD· 3 shared Benjamin H. MulliniD· 3 shared Benjamin M. NealeiD· 3 shared Bronwyn G. A. StuckeyiD· 3 shared Cecilia M. LindgreniD· 3 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

André Gerardus UitterlindenORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 18, 2024

Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome

Loes M E Moolhuijsen, Jia Zhu, Benjamin H. Mullin…·Felix R. Day

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

12 citations

humanproteomics

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BioinformaticsThe Journal of Clinical Endocrinology & MetabolismPeer-reviewedJan 9, 2020

A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

Yoonjung Yoonie Joo, Ky’Era V. Actkins, Jennifer A. Pacheco…·Corrine Kolka Welt

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

63 citationstop 1%

humanelectronic health records

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GeneticsPLoS GeneticsPeer-reviewedDec 19, 2018

Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria.

Felix R. Day, Tugce Karaderi, Michelle R. Jones…·Corrine Kolka Welt

This study performs a large-scale genome-wide meta-analysis of PCOS cases and identifies genetic loci associated with PCOS and related traits, showing shared genetic architecture across different diagnostic criteria.

619 citationstop 1%

humanwhole-genome sequencing

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