# Orly Elpeleg

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/orly-elpeleg/

## Facts

| Field | Value |
| --- | --- |
| Citations | 17,522 |
| Field | Metabolism and Genetic Disorders |
| h-index | 74 |
| i10-index | 251 |
| OpenAlex ID | https://openalex.org/A5033572261 |
| ORCID iD | 0000-0002-5041-7272 |
| Works | 354 |

## Researcher papers

- [Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy](https://scholariq.org/papers/mutant-mitochondrial-thymidine-kinase-in-mitochondrial-dna-depletion-myopathy/)
- [The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA](https://scholariq.org/papers/the-deoxyguanosine-kinase-gene-is-mutated-in-individuals-with-depleted/)
- [Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia](https://scholariq.org/papers/deleterious-mutation-in-the-mitochondrial-arginyl-transfer-rna-synthetase-gene/)
- [A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism](https://scholariq.org/papers/a-deleterious-mutation-in-dnajc6-encoding-the-neuronal-specific-clathrin/)
- [Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion](https://scholariq.org/papers/deficiency-of-the-adp-forming-succinyl-coa-synthase-activity-is-associated-with/)
- [A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins](https://scholariq.org/papers/a-fatal-mitochondrial-disease-is-associated-with-defective-nfu1-function-in-the/)
- [Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit](https://scholariq.org/papers/demonstration-of-a-new-pathogenic-mutation-in-human-complex-i-deficiency-a-5-bp/)
- [Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation](https://scholariq.org/papers/defective-mitochondrial-translation-caused-by-a-ribosomal-protein-mrps16/)
- [Acute Infantile Liver Failure Due to Mutations in the TRMU Gene](https://scholariq.org/papers/acute-infantile-liver-failure-due-to-mutations-in-the-trmu-gene/)
- [Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood](https://scholariq.org/papers/mutations-in-lpin1-cause-recurrent-acute-myoglobinuria-in-childhood/)
- [Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects](https://scholariq.org/papers/deficiency-of-caspase-recruitment-domain-family-member-11-card11-causes-profound/)
- [Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis](https://scholariq.org/papers/clinical-presentation-and-analysis-of-genotype-phenotype-correlations-in/)

## Researcher topics

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)

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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.