Author

Joanne Hughes

Temple Street Children's University Hospital

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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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ahmad AlahmadiD· 1 shared Amy Goldstein· 1 shared Benjamin Lucas· 1 shared Buthaina AlbashiD· 1 shared Charlotte L. AlstoniD· 1 shared Christopher A. PowelliD· 1 shared Daniela Verrigni· 1 shared Daniele GhezziiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Ahmad AlahmadORCID

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1 paper

Recent·Most cited

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’-end processing

Makenzie Saoura, Christopher A. Powell, Robert Kopajtich, Ahmad Alahmad, Haya H. Al‐Balool, Buthaina Albash, Majid Alfadhel, Charlotte L. Alston, Enrico Bertini, Penelope E. Bonnen, Drago Bratkovic, Rosalba Carrozzo, Maria Alice Donati, Michela Di Nottia, Daniele Ghezzi, , Michal A. Minczuk

This study identifies novel ELAC2 variants linked to hypertrophic cardiomyopathy and mitochondrial dysfunction, confirms their pathogenicity through in vitro analysis, and links one variant to prostate cancer.

Human Mutation · May 2, 2019Peer-reviewedGenetics