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The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03083-3Source: DataRank Database

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects is a research paper published in Orphanet Journal of Rare Diseases (2024). On theSindex it has a DataRank of 0. It has been cited 5 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access5 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (5 grants)Impact (FWCI 1.92)OA: goldTopics (48)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (1)

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 (15)

Francine Molay,Sarah Hargadon,Cláudia Brito Pires,Natalie Grant ORCID,Lizbeth De La Rosa Abreu

Live enrichment

PubMed:38378692 PMC:PMC10880200 OpenAlex:https://openalex.org/W4391953738

Rare Diseases Clinical Research Network

Grant: 1U54NS115052-01

The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)

NCATS NIH HHS

Grant: UL1 TR002541

NINDS NIH HHS

Grant: U54 NS115052

National Institutes of Health

Grant: 5UL1TR002541-04

The Harvard Clinical and Translational Science Center

Massachusetts General Hospital

FWCI

1.92

Citation Percentile

0.9%

Citation Trend

2025

2026

goldLicense: cc-by

journalhttps://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-024-03083-3

publisherhttps://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-024-03083-3

publisherhttps://link.springer.com/content/pdf/10.1186/s13023-024-03083-3.pdf

publisherhttps://link.springer.com/article/10.1186/s13023-024-03083-3/fulltext.html

journalhttps://doi.org/10.1186/s13023-024-03083-3

Fields of Study

Genomics and Rare DiseasesNeurogenetic and Muscular Disorders ResearchGenomic variations and chromosomal abnormalities0301 basic medicine0303 health sciences03 medical and health sciencesHumansCross-Sectional StudiesNeurodevelopmental DisordersMutation, MissenseReceptors, Cytoplasmic and NuclearRepressor Proteins

MeSH Terms

Cross-Sectional StudiesHumansRepressor ProteinsReceptors, Cytoplasmic and NuclearMutation, MissenseNeurodevelopmental Disorders

Keywords

Missense mutationCohortDiseaseMedicineEarly childhoodNeurodevelopmental disorderGlobal developmental delayPediatricsGeneGeneticsPsychologyBiologyDevelopmental psychologyPathologyPhenotypeEpilepsyBehaviorGenetic diseasesAutismIntellectual DisabilityTbl1xr1Pierpont SyndromeResearchRMutation, MissenseReceptors, Cytoplasmic and NuclearRepressor ProteinsCross-Sectional StudiesNeurodevelopmental DisordersHumans

Sustainable Development Goals

SDG 3: 3. Good health

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

FAIR Checklist

Authors (15)

Funding (5 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)