Author

Jennifer Duff

Newcastle upon Tyne Hospitals NHS Foundation Trust

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 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:cell-cell communication· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Abdulaziz Alsaman· 1 shared Adela Della MarinaiD· 1 shared Ana CottaiD· 1 shared Ana TöpfiD· 1 shared André MattmaniD· 1 shared Andreas RoosiD· 1 shared Andrew R. FindlayiD· 1 shared Angela PyleiD· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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Curved chords = mutual co-authorship

1 shared paperGenetics

Abdulaziz Alsaman

Mutual co-authors in cluster

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2 papers

Recent·Most cited

GeneticsActa NeuropathologicaPeer-reviewedOct 20, 2022

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

Conrad Chris Weihl, Ana Töpf, Rocío Bengoechea…·Volker W. Straub

The paper identifies DNAJB4 loss of function variants causing a myopathy with early respiratory failure through exome sequencing and functional studies.

30 citations

humanmouse

𝕏 PostBluesky

Genetic & Genomic MedicineThe EMBO JournalPeer-reviewedOct 31, 2020

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Denisa Hathazi, Helen R Griffin, Matthew James Jennings…·Rita Horváth

The paper identifies a metabolic shift involving amino acid availability and mitochondrial biogenesis as the mechanism underlying recovery in reversible infantile respiratory chain deficiency.

48 citations

humanDNA methylation

𝕏 PostBluesky