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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1 shared paperGenetics

Abdulaziz Alsaman

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2 papers

Recent·Most cited

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

Conrad Chris Weihl, Ana Töpf, Rocío Bengoechea, Jennifer Duff, Richard Charlton, Solange Kapetanovic García, Cristina Domínguez‐González, Abdulaziz Alsaman, Aurelio Hernández‐Laín, Luís Varona, Monica Elizabeth Ponce Sanchez, Sarah J. Beecroft, Hayley Goullée, Jil Daw, Ankan Kumar Bhadra, , Volker W. Straub

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

Acta Neuropathologica · Oct 20, 2022Peer-reviewedGenetics

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Denisa Hathazi, Helen R Griffin, Matthew James Jennings, Michele Giunta, Christopher A. Powell, Sarah F. Pearce, Benjamin Munro, Wei Wei, Veronika Boczonadi, Joanna Poulton, Angela Pyle, Claudia Calabrese, Aurora Gómez-Durán, Ulrike Schara, Robert D. S. Pitceathly, , 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.

The EMBO Journal · Oct 31, 2020Peer-reviewedGenetic & Genomic Medicine