Author

Noemi B. A. Roy

John Radcliffe HospitalORCID 0000-0002-0919-0790Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Research Focus:cell type annotation· 2 Approach:experimental assay· 2 Assay:bulk RNA-seq· 1 Research Focus:cell-cell communication· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Christian BabbsiD· 3 shared Caroline ScottiD· 2 shared Douglas R. HiggsiD· 2 shared Adam P. LevineiD· 1 shared Adrian James ThrasheriD· 1 shared Agnieszka BierżyńskaiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Alexis CaulieriD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Christian BabbsORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineDevelopmental CellPeer-reviewedAug 15, 2023

RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

Danya J. Martell, Hope E. Merens, Alexis Caulier…·L. Stirling Churchman

This study shows that SUPT5H mutations disrupt RNA polymerase II pausing, delaying erythroid differentiation and cell cycle progression in human cells.

34 citationstop 2%

humanbulk RNA-seq

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GenomicsNaturePeer-reviewedJun 24, 2020

Whole-genome sequencing of rare disease patients in a national healthcare system

Ernest Turro, William J. Astle, Karyn Mégy…·Rachel J. Buchan

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

570 citationstop 1%

humanwhole-genome sequencing

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GeneticsbioRxivPreprintAug 30, 2019

Modelling erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I)

Caroline Scott, Damien J. Downes, Jill M. Brown…·Veronica J. Buckle

This study models erythropoiesis in CDA-I by analyzing patient-derived erythroblasts, identifying abnormalities in DNA accessibility, proliferation, and enucleation, with genotype-phenotype correlations.

3 citations

humanproteomics

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