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Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1477Source: DataRank Database

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder is a research paper published in Molecular Genetics & Genomic Medicine (2020). On theSindex it has a DataRank of 0. It has been cited 18 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access18 citations

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omim refseq

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (3 grants)Impact (FWCI 1.92)OA: goldTopics (61)IDs (PubMed, PMC, OpenAlex)Annotations (2)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 (11)

Ikuo Masuho ORCID,Filippo Pinto e Vairo ORCID,Christopher T. Schmitz,Tanya L. Schwab,Karl J. Clark ORCID

Live enrichment

PubMed:32918542 PMC:PMC7667315 OpenAlex:https://openalex.org/W3085777005

Foundation for the National Institutes of Health

Grant: DA036596

NIDA NIH HHS

Grant: R01 DA036596

National Institutes of Health

Grant: 1R01DA036596-01A1

Regulation of Striatal Signaling by RGS Proteins

FWCI

1.92

Citation Percentile

0.9%

Citation Trend

2020

2021

2022

2023

2024

2025

goldLicense: cc-by

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.1477

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.1477

publisherhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.1477

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1477

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1477

Fields of Study

Genomics and Rare DiseasesGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities0301 basic medicine0303 health sciences03 medical and health sciencesChildChild, PreschoolDevelopmental DisabilitiesFemaleGTP-Binding Protein beta SubunitsHEK293 CellsHaploinsufficiencyHumansIntellectual DisabilityLoss of Function MutationMaleMutation, MissenseRNA SplicingSeizuresSignal Transduction

MeSH Terms

Loss of Function MutationChildDevelopmental DisabilitiesChild, PreschoolFemaleHumansMaleIntellectual DisabilityRNA SplicingSeizuresSignal TransductionMutation, MissenseGTP-Binding Protein beta SubunitsHEK293 CellsHaploinsufficiency

Keywords

HaploinsufficiencyHypotoniaGeneticsBiologyNeurodevelopmental disorderMissense mutationPhenotypeLoss functionGeneMaleDevelopmental DisabilitiesRNA SplicingGTP-Binding Protein beta SubunitsMutation, MissenseOriginal ArticlesQH426-470HEK293 CellsLoss of Function MutationSeizuresChild, PreschoolIntellectual DisabilityHumansFemaleChildSignal Transduction

Sustainable Development Goals

SDG 0: Good health and well-being

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

FAIR Checklist

Authors (11)

Funding (3 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)