Thomas B. Smith
Manchester, ENG M139PL, United Kingdom
Last Updated: 09/26/2026
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Found 18 publications
Bi-allelic missense variants in human GPN2 result in Perrault syndrome.
Journal: American journal of human genetics
Published: March 27, 2026
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Journal: Neurogenetics
Published: December 18, 2025
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Journal: medRxiv : the preprint server for health sciences
Published: October 17, 2024
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Journal: American journal of human genetics
Published: October 09, 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.
Journal: medRxiv : the preprint server for health sciences
Published: October 07, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Journal: American journal of human genetics
Published: July 28, 2024
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Journal: European journal of human genetics : EJHG
Published: April 21, 2023
Topological engineering of terahertz light using electrically tunable exceptional point singularities.
Journal: Science (New York, N.Y.)
Published: April 07, 2022
Nuclear Magnetic Resonance Spectroscopy Metabolomics in Idiopathic Intracranial Hypertension to Identify Markers of Disease and Headache.
Journal: Neurology
Published: January 09, 2022
Selection and structural characterization of anti-TREM2 scFvs that reduce levels of shed ectodomain.
Selection and structural characterization of anti-TREM2 scFvs that reduce levels of shed ectodomain.
Journal: Structure (London, England : 1993)
Published: January 29, 2021
TREM2 Alzheimer's variant R47H causes similar transcriptional dysregulation to knockout, yet only subtle functional phenotypes in human iPSC-derived macrophages.
Journal: Alzheimer's research & therapy
Published: February 28, 2020
Last Updated: 09/26/2026