Concepedia

Kyle Thompson

KT

26

Publications

961

Citations

20

H-Index

2001

Active since

Affiliations

Wellcome Centre for Mitochondrial Research(Current)

Newcastle University

University of Cambridge

Technical University of Munich

Centre for Biomedical Network Research on Rare Diseases

Kyle Thompson is an author at Wellcome Centre for Mitochondrial Research specializing in medicine, molecular biology, and molecular genetics.

Top concepts

Publications per year

2001–2022

26

Publications

26

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Monika Oláhová, Wan Hee Yoon, Kyle Thompson et al. · The American Journal of Human Genetics · 2018 · 106 citations · Full text

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

René G. Feichtinger, Monika Oláhová, Yoshihito Kishita et al. · The American Journal of Human Genetics · 2017 · 85 citations · Full text

<i> <scp>OXA</scp> 1L </i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Kyle Thompson, Nicole Mai, Monika Oláhová et al. · EMBO Molecular Medicine · 2018 · 84 citations · Full text

Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations

Nadja Mingirulli, Angela Pyle, Denisa Hathazi et al. · Journal of Inherited Metabolic Disease · 2019 · 55 citations · Full text

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Irit Hochberg, Leigh Demain, Julie Richer et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

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