Author

Holly R. Mabillard

National Health ServiceORCID 0000-0001-6725-7570Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Anthony J. BleyeriD· 2 shared Elhussein A. E. ElhassaniD· 2 shared Eric Gregory OlingeriD· 2 shared John Andrew SayeriD· 2 shared Kendrah O. KiddiD· 2 shared Peter J. ConloniD· 2 shared Stanislav KmochiD· 2 shared A. Rendon· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anthony J. BleyerORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicineBMC NephrologyPeer-reviewedDec 18, 2024

Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study

Kendrah O. Kidd, Adrienne H. Williams, Abbigail Taylor…·Anthony J. Bleyer

This study finds that individuals with ADTKD-MUC1 have an eight-fold higher risk of COVID-19 mortality compared to ADTKD-UMOD individuals, possibly due to reduced mucin-1 production.

1 citation

humanstatistical model

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Genetic & Genomic MedicineProceedings of the National Academy of SciencesPeer-reviewedAug 10, 2022

An intermediate effect size variant in UMOD confers risk for chronic kidney disease

Eric Gregory Olinger, Céline Schaeffer, Kendrah O. Kidd…·Magdalena Zarowiecki

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.

49 citationstop 2%

humanGWAS summary statistics

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