Author

Scott J Gies

Icahn School of Medicine at Mount Sinai

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· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Research Focus:eQTL / molecular QTL mapping· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alejandro Martin-TrujilloiD· 2 shared Andrew J. SharpiD· 2 shared Bharati Jadhav· 2 shared Paras GargiD· 2 shared Andrea CorteseiD· 1 shared Anupriya DalmiaiD· 1 shared Arianna TucciiD· 1 shared Benedict PateniD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alejandro Martin-TrujilloORCID

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2 papers

Recent·Most cited

Increased frequency of repeat expansion mutations across different populations

Kristina Ibáñez, Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini, Paras Garg, Alejandro Martin-Trujillo, Scott J Gies, Valentina Galassi Deforie, Anupriya Dalmia, Davina J. Hensman Moss, Jana Vandrovcová, Clarissa Rocca, Loukas Moutsianas, , Arianna Tucci

The paper estimates the frequency of repeat expansion mutations across populations using whole genome sequencing data and finds higher expected prevalence than current reports.

Nature Medicine · Oct 1, 2024Peer-reviewedGenetic & Genomic Medicine

Pervasive cis effects of variation in copy number of large tandem repeats on local epigenetics and gene expression

Paras Garg, Alejandro Martin-Trujillo, Oscar L. Rodriguez, Scott J Gies, Elina Hadelia, Bharati Jadhav, Miten Jain, Benedict Paten, Andrew J. Sharp

The paper identifies VNTRs associated with gene expression and DNA methylation, validates their associations, and links them to human phenotypes through GWAS.

The American Journal of Human Genetics · Mar 31, 2021Peer-reviewedGenomics