Author

Samantha Carrera

University of Manchester

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· 2 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Research Focus:cell-cell communication· 1 Assay:ChIP-seq· 1 Approach:experimental assay· 1 Assay:proteomics· 1

Frequent Co-Authors

Alessandro ReaiD· 2 shared Anju ShuklaiD· 2 shared Henry HouldeniD· 2 shared Huw B. ThomasiD· 2 shared Kevin James MunroiD· 2 shared Kyle Thompson· 2 shared Langping HeiD· 2 shared Leigh A. M. DemainiD· 2 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alessandro ReaORCID

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Author profile →

3 papers

Recent·Most cited

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Huw B. Thomas, Leigh A. M. Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea, Thashi Bharadwaj, Thomas B. Smith, Monika Oláhová, Kyle Thompson, Langping He, Namanpreet Kaur, Anju Shukla, Musaad F. Abukhalid, Muhammad Ansar, , William G. Newman

The American Journal of Human Genetics · Mar 4, 2025Peer-reviewedGenetic & Genomic Medicine

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

Thomas B. Smith, Robert Kopajtich, Leigh A. M. Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff, Christian Beetz, Shelagh Joss, Gerard S. Conway, Anju Shukla, Mayuri Yeole, Periyasamy Radhakrishnan, Hatem Azzouz, Amel Ben Chehida, Monique Elmaleh, , William G. Newman

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

medRxiv · Aug 19, 2024 · PreprintGenetic & Genomic Medicine

Complexities in the role of acetylation dynamics in modifying inducible gene activation parameters

Samantha Carrera, Amanda O’Donnell, Yaoyong Li, Karol Nowicki-Osuch, Shen‐Hsi Yang, Syed Murtuza Baker, David G. Spiller, Andrew D Sharrocks

The paper investigates how acetylation dynamics affect gene activation, finding two distinct gene classes with opposing requirements for acetylation levels in their transcriptional response.

Nucleic Acids Research · Nov 11, 2021Peer-reviewedMolecular Biology