Author

Gerald B. Appel

Columbia University Irving Medical Center

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:bulk RNA-seq· 1 Research Focus:eQTL / molecular QTL mapping· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 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 Gian Marco GhiggeriiD· 3 shared Isabella PisaniiD· 3 shared Jai RadhakrishnaniD· 3 shared

Activity by Year

2018-2025 · 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

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Author profile →

4 papers

Recent·Most cited

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, Gundula Povysil, Andrew Beenken, Miguel Verbitsky, Shirlee Shril, Iris Lekkerkerker, Sandy Yu-Rung Yang, Atlas Khan, David A. Fasel, Janewit Wongboonsin, Jeremiah Martino, Juntao Ke, Naama Elefant, , 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.

Nature Communications · Aug 7, 2025Peer-reviewedGenetic & Genomic Medicine

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

Yask Gupta, David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon M. Lane, Chen Wang, Juntao Ke, Gina Ying Jin, Benjamin Wooden, Andrea L. Uscinski Knob, Tze Yin Lim, Gerald B. Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, , 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.

Nature Communications · Nov 30, 2023Peer-reviewedGenetic & Genomic Medicine

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

Krzysztof Kiryluk, Elena Sánchez, Shu‐Feng Zhou, Francesca Zanoni, Lili Liu, Nikol Mladkova, Atlas Khan, Maddalena Marasà, Jun Y. Zhang, Olivia Balderes, Simone Sanna‐Cherchi, Andrew S. Bomback, Pietro A. Canetta, Gerald B. Appel, Jai Radhakrishnan, , Claudia Izzi

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

medRxiv · Nov 19, 2021 · PreprintGenetic & Genomic Medicine

An eQTL landscape of kidney tissue in human nephrotic syndrome

Christopher E. Gillies, Rosemary K.B. Putler, Rajasree Menon, Edgar A. Otto, Kalyn Yasutake, Viji Nair, Paul Hoover, David Lieb, Shuqiang Li, Sean F. Eddy, Damian Fermin, Michelle T. McNulty, John R. Sedor, Katherine M. Dell, Marleen Schachere, , Cindy Roy

The paper identifies eQTLs in glomerular and tubulointerstitial kidney tissues from nephrotic syndrome patients, finds tissue-specific eQTLs, and integrates them with a GWAS to identify associated genes.

The American Journal of Human Genetics · Jul 26, 2018Peer-reviewedGenomics