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Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Genetics in Medicine(2022)10.1016/j.gim.2022.11.001Source: DataRank Database

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities is a research paper published in Genetics in Medicine (2022). On theSindex it has a DataRank of 0. It has been cited 30 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access30 citations

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omim orphadata pdb

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (10 grants)Impact (FWCI 8.74)OA: hybridTopics (23)IDs (PubMed, PMC, OpenAlex)Annotations (3)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (22)

Madison Chilian,Ehsan Ghayoor Karimiani ORCID,Helga Progri,Daniela Buhaş ORCID,Melis Köse ORCID

Live enrichment

PubMed:36520152 PMC:PMC9905285 OpenAlex:https://openalex.org/W4311507711

Medical Research Council

Grant: MR/N013638/1

Medical Research Council

Grant: G0601943

NIGMS NIH HHS

Grant: P20 GM103636

NIGMS NIH HHS

Grant: R01 GM142143

National Institute for Health Research (NIHR)

Grant: NIHR205088

NICHD NIH HHS

Grant: P50 HD105354

NINDS NIH HHS

Grant: R01 NS121298

Medical Research Council

Grant: MR/S005021/1

Medical Research Council

Grant: MR/S01165X/1

National Institute for Health Research (NIHR)

FWCI

8.74

Citation Percentile

1.0%

Citation Trend

2023

2024

2025

2026

hybridLicense: cc-by

journalhttp://www.gimjournal.org/article/S1098360022010000/pdf

publisherhttp://www.gimjournal.org/article/S1098360022010000/pdf

publisherhttps://api.elsevier.com/content/article/PII:S1098360022010000?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1098360022010000?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.gim.2022.11.001

Fields of Study

Biochemical Acid Research StudiesBiochemical and Molecular ResearchMetabolism and Genetic Disorders

MeSH Terms

AnimalsDrosophila melanogasterHumansKetoglutarate Dehydrogenase ComplexMovement DisordersHEK293 CellsNeurodevelopmental Disorders

Keywords

Exome sequencingBiologyGeneticsHEK 293 cellsDrosophila melanogasterIn silicoMutationGeneMitochondriaOgdhNeurodevelopmental DiseaseOxoglutarate DehydrogenaseΑ-ketoglutarate Dehydrogenase Deficiency

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

FAIR Checklist

Authors (22)

Funding (10 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)