Kyle Thompson

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Active since

2001

Affiliations

Wellcome Centre for Mitochondrial Research(Current)

Newcastle University

University of Cambridge

Centre for Biomedical Network Research on Rare Diseases

King's College London

Kyle Thompson is an author at Wellcome Centre for Mitochondrial Research specializing in life sciences, mitochondrial disorders, and mitochondrial disease.

Publications per year

2001–2022

Publications

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 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 87 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Kyle Thompson, Nicole Mai, Monika Oláhová et al. · EMBO Molecular Medicine · 2018 · 86 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

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 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 57 citations · Full text

Life Sciences, Genetics, Gene Expression +10

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