Author

Davina J. Hensman Moss

St George's, University of LondonORCID 0000-0003-2467-0917Unclaimed 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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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2

Frequent Co-Authors

Sarah J. TabriziiD· 2 shared Alejandro Martin-TrujilloiD· 1 shared Andrea CorteseiD· 1 shared Andrew J. SharpiD· 1 shared Anne RosseriD· 1 shared Anupriya DalmiaiD· 1 shared Arianna TucciiD· 1 shared Bharati Jadhav· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetics

Sarah J. TabriziORCID

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2 papers

Recent·Most cited

Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

Carolin Koriath, Fernando Guntoro, Penny J. Norsworthy, Egor Dolzhenko, Michael A. Eberle, Davina J. Hensman Moss, Michael D. Flower, Holger Hummerich, Anne Rosser, Sarah J. Tabrizi, Simon Mead, Edward J. Wild

This study estimates the prevalence of HD phenocopy syndromes, finds clinical distinctions are difficult, and uses whole-genome sequencing to identify one ATXN1 expansion in a subcohort.

Journal of Neurology Neurosurgery & Psychiatry · Oct 23, 2024Peer-reviewedGenetics

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