Author

Delia Gagliardi

Queen Mary University of LondonORCID 0000-0001-8460-938XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alejandro Martin-TrujilloiD· 2 shared Andrew J. SharpiD· 2 shared Arianna TucciiD· 2 shared Bharati Jadhav· 2 shared Clarissa RoccaiD· 2 shared Henry HouldeniD· 2 shared Kristina IbáñeziD· 2 shared Paras GargiD· 2 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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

Genetic & Genomic MedicineNature MedicinePeer-reviewedOct 1, 2024

Increased frequency of repeat expansion mutations across different populations

Kristina Ibáñez, Bharati Jadhav, Matteo Zanovello…·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.

94 citationstop 1%

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintMay 3, 2023

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability

Bharati Jadhav, Paras Garg, Joke J.F.A. van Vugt…·Andrew J. Sharp

The paper identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability through a phenome-wide association study using DNA methylation profiling and UK Biobank data.

6 citations

humanDNA methylation

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