Author

Thomas B. Smith

University of ManchesterORCID 0000-0003-2464-5674Unclaimed ORCID profile · follow to get notified of new preprints

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:experimental assay· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:protein structure· 1 Research Focus:protein structure prediction· 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

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 4, 2025

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…·William G. Newman

14 citationstop 5%

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintAug 19, 2024

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…·William G. Newman

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

2 citations

humanproteomics

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Molecular BiologyStructurePeer-reviewedJul 6, 2021

Selection and structural characterisation of anti-TREM2 scFvs that reduce levels of shed ectodomain

Aleksandra Szykowska, Yu Chen, Thomas B. Smith…·Alex N. Bullock

The paper identifies and characterizes anti-TREM2 scFv antibodies that inhibit soluble TREM2 production.

19 citations

humanprotein structure

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