Author

Gian Marco Ghiggeri

Istituto Giannina GasliniORCID 0000-0003-3659-9062Unclaimed 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· 3 Approach:statistical model· 3 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adele MitrottiiD· 3 shared Andrew S. BombackiD· 3 shared Antonio AmorosoiD· 3 shared Atlas KhaniD· 3 shared Enrico FiaccadoriiD· 3 shared Gerald B. Appel· 3 shared Isabella PisaniiD· 3 shared Jai RadhakrishnaniD· 3 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Adele MitrottiORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedAug 7, 2025

Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders

Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena…·Yaşar Çalışkan

This study identifies new genes and shared genetic architecture between kidney anomalies and other developmental disorders using exome-wide analysis of clinical cohorts.

12 citationstop 2%

humanwhole-exome sequencing

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedNov 30, 2023

Strong protective effect of the APOL1 p.N264K variant against G2-associated FSGS and kidney disease

Yask Gupta, David J. Friedman, Michelle T. McNulty…·Simone Sanna‐Cherchi

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.

75 citationstop 1%

humanstatistical model

Genetic & Genomic MedicinemedRxivPreprintNov 19, 2021

GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy

Krzysztof Kiryluk, Elena Sánchez, Shu‐Feng Zhou…·Claudia Izzi

This study identifies 30 genome-wide significant risk loci for IgA nephropathy, links them to inflammatory pathways, and prioritizes drug targets.

5 citations

humanGWAS summary statistics