Author

M. A. Aldred

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Cell Biology· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:clustering· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1

Frequent Co-Authors

A. Bielowka· 1 shared C. L. Shovlin· 1 shared D. Patel· 1 shared M. E. Bernabeu-Herrero· 1 shared M. Noseda· 1 shared P. Chaves Guerrero· 1 shared S. J. Marciniak· 1 shared

Activity by Year

2021-2021 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperCell Biology

A. Bielowka

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1 paper

Recent·Most cited

Cell BiologybioRxivPreprintDec 5, 2021

Heterozygous transcriptional signatures unmask variable premature termination codon (PTC) burden alongside pathway-specific adaptations in blood outgrowth endothelial cells from patients with nonsense DNA variants causing hereditary hemorrhagic telangiectasia

M. E. Bernabeu-Herrero, D. Patel, A. Bielowka…·C. L. Shovlin

The paper examines the effects of nonsense DNA variants in HHT patients by analyzing transcriptional signatures and PTC burden in BOECs, finding pathway-independent changes in protein modification and stress-related patterns.

DOI 10.1101/2021.12.05.471269

humanbulk RNA-seq

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