Author

Richard Charlton

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.

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Genetics· 1

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Abdulaziz Alsaman· 1 shared Ana TöpfiD· 1 shared Andrew R. FindlayiD· 1 shared Ankan Kumar BhadraiD· 1 shared Aurelio Hernández‐LaíniD· 1 shared Conrad Chris WeihliD· 1 shared Cristina Domínguez‐GonzáleziD· 1 shared Gianina RavenscroftiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Abdulaziz Alsaman

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1 paper

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