Author

Guglielmo Schiano

Beth Israel Deaconess Medical CenterORCID 0000-0002-3549-7796Unclaimed 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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Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Céline SchaefferiD· 2 shared Eric Gregory OlingeriD· 2 shared Luca RampoldiiD· 2 shared Olivier DevuystiD· 2 shared A. Rendon· 1 shared Adam P GiessiD· 1 shared Afshan SiddiqiD· 1 shared Alex Stuckey· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Céline SchaefferORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney Disease

Guglielmo Schiano, Jennifer L. Lake, Marta Mariniello, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Gregory Olinger, Olivier Devuyst

This study investigates allelic and gene dosage effects of UMOD mutations in ADTKD, showing toxic aggregates and ER stress contribute to kidney disease progression.

bioRxiv · Sep 13, 2022 · PreprintGenetics

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

Eric Gregory Olinger, Céline Schaeffer, Kendrah O. Kidd, Elhussein A. E. Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly R. Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel Guido Fuster, Andreas David Kistler, Ian Wilson, Stanislav Kmoch, Laure Raymond, , 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.

Proceedings of the National Academy of Sciences · Aug 10, 2022Peer-reviewedGenetic & Genomic Medicine