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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Human Molecular Genetics(2020)10.1093/hmg/ddaa081Source: DataRank Database

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment is a research paper published in Human Molecular Genetics (2020). On theSindex it has a DataRank of 1.1. It has been cited 41 times, with 29 citing works in its 1-hop citation network.

N/A

1.1DataRank · unranked

Scored on demand from live citation data

Open Access41 citations · 29 citing works in its network

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Linked data & code

omim refseq

DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (17 grants)Impact (FWCI 2.24)OA: greenTopics (68)IDs (PubMed, PMC, OpenAlex)Annotations (2)SDGs (2)

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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DataRank Breakdown

Base Score 49%Citation Network 51%

Base Score Contribution

0.561

From this paper's citation signal

Citation Network Contribution

0.581

From 25 citing papers with measurable signal

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Top 5 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 29 citers.

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eLife202357 citations116 referencesContributes 0.035
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Authors (18)

Lauren C. Briere ORCID,Oguz Kanca ORCID,Paul C. Marcogliese ORCID,Melissa Walker ORCID,Frances A. High

Live enrichment

PubMed:32356556 PMC:PMC7268787 OpenAlex:https://openalex.org/W3021195767

CIHR

Grant: MFE-164712

NIH

Grant: U54HD083092

NIH

Grant: R24OD022005

Australian National Health and Medical Research Council

Grant: 1068278

Using high-throughput genomics to reveal the deleterious genetic changes that underlie paediatric leukoencephalopathies

Undiagnosed Disease Network

Grant: U01HG007690

Undiagnosed Disease Network

Grant: U54NS093793

NICHD NIH HHS

Grant: P50 HD103555

NCATS NIH HHS

Grant: UL1 TR002541

National Institutes of Health

Grant: 3U54HD083092-05S1

Baylor Intellectual and Developmental Disabilities Research Centers

Canadian Institutes of Health Research

Grant: unidentified

unidentified

National Institutes of Health

Grant: 5R24OD022005-03

A Comprehensive Human cDNA Library For Functional Gene Replacement in Drosophila

National Institutes of Health

Grant: 1U54NS093793-01

Leadership/Implementation Project

National Institutes of Health

Grant: 1U01HG007690-01

Center for Integrated Approaches to Undiagnosed Diseases

Victorian Government’s Operational Infrastructure Support Program

Howard Hughes Medical Institute

NIH

Howard Hughes Medical Institute

FWCI

2.24

Citation Percentile

0.9%

Citation Trend

2020

2021

2022

2023

2024

2025

2026

greenLicense: OUP Standard Publication Reuse

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/7268787

publisherhttp://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddaa081/33239494/ddaa081.pdf

publisherhttp://academic.oup.com/hmg/article-pdf/29/9/1568/33340197/ddaa081.pdf

journalhttps://doi.org/10.1093/hmg/ddaa081

Fields of Study

Mitochondrial Function and PathologyRNA modifications and cancerATP Synthase and ATPases Research0301 basic medicine03 medical and health sciencesAge of OnsetAtaxiaChildDystoniaFemaleGenetic Predisposition to DiseaseHumansLeukoencephalopathiesMaleMitochondriaMitochondrial Membrane Transport ProteinsMitochondrial Precursor Protein Import Complex ProteinsMuscle HypotoniaNervous System DiseasesReflex, Abnormal

MeSH Terms

Mitochondrial Precursor Protein Import Complex ProteinsAtaxiaChildDystoniaFemaleHumansMaleMitochondriaMuscle HypotoniaNervous System DiseasesReflex, AbnormalAge of OnsetGenetic Predisposition to DiseaseMitochondrial Membrane Transport ProteinsLeukoencephalopathies

Keywords

BiologyGeneticsPhenotypeHypotoniaLoss functionMitochondrionTranslocaseAlleleAtaxiaMutationGeneChromosomal translocationNeuroscienceMale2716 Genetics (clinical)Reflex, AbnormalGeneral MedicineMitochondrial Membrane Transport ProteinsMitochondriaDystonia1311 GeneticsLeukoencephalopathiesMitochondrial Precursor Protein Import Complex Proteins1312 Molecular BiologyHumansMuscle HypotoniaGenetics(clinical)FemaleGenetic Predisposition to DiseaseAge of OnsetNervous System DiseasesChildMolecular Biology

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being