# Patrick F. Chinnery

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/patrick-f-chinnery/

## Facts

| Field | Value |
| --- | --- |
| Citations | 64,528 |
| Field | Mitochondrial Function and Pathology |
| h-index | 129 |
| i10-index | 546 |
| Last Known Institution | University of Cambridge |
| OpenAlex ID | https://openalex.org/A5013583757 |
| ORCID iD | https://orcid.org/0000-0002-7065-6617 |
| Works | 942 |

## Researcher papers

- [The Human Phenotype Ontology in 2017](https://scholariq.org/papers/the-human-phenotype-ontology-in-2017/)
- [Whole-genome sequencing of patients with rare diseases in a national health system](https://scholariq.org/papers/whole-genome-sequencing-of-patients-with-rare-diseases-in-a-national-health/)
- [A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy](https://scholariq.org/papers/a-randomized-placebo-controlled-trial-of-idebenone-in-leber-s-hereditary-optic/)
- [Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease](https://scholariq.org/papers/comprehensive-rare-variant-analysis-via-whole-genome-sequencing-to-determine-the/)
- [Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease](https://scholariq.org/papers/excessive-burden-of-lysosomal-storage-disorder-gene-variants-in-parkinson-s/)
- [Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies](https://scholariq.org/papers/use-of-whole-exome-sequencing-to-determine-the-genetic-basis-of-multiple/)
- [Gene–environment interactions in Leber hereditary optic neuropathy](https://scholariq.org/papers/gene-environment-interactions-in-leber-hereditary-optic-neuropathy/)
- [Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy](https://scholariq.org/papers/efficient-mitochondrial-biogenesis-drives-incomplete-penetrance-in-leber-s/)
- [Germline selection shapes human mitochondrial DNA diversity](https://scholariq.org/papers/germline-selection-shapes-human-mitochondrial-dna-diversity/)
- [Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension](https://scholariq.org/papers/phenotypic-characterization-of-i-eif2ak4-i-mutation-carriers-in-a-large-cohort/)

## Researcher topics

- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Genetic Neurodegenerative Diseases](https://scholariq.org/topics/genetic-neurodegenerative-diseases/)
- [ATP Synthase and ATPases Research](https://scholariq.org/topics/atp-synthase-and-atpases-research/)
- [Neurological diseases and metabolism](https://scholariq.org/topics/neurological-diseases-and-metabolism/)

## Researcher university

- [University of Cambridge](https://scholariq.org/institutions/university-of-cambridge/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.