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Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64093Source: DataRank Database

Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype is a research paper published in American Journal of Medical Genetics Part A (2025). On theSindex it has a DataRank of 0. It has been cited 2 times.

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Open Access2 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (6 grants)Impact (FWCI 1.96)OA: greenTopics (46)IDs (PubMed, PMC, OpenAlex)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 (34)

Chi Vicky Cheng ORCID,Stefano Giuseppe Caraffi ORCID,Ivan Ivanovski ORCID,Gianluca Piatelli ORCID,Edoardo Errichiello ORCID

Live enrichment

PubMed:40317680 PMC:PMC12339213 OpenAlex:https://openalex.org/W4410058569

National Institutes of Health

Grant: 1R01NS050375

Wellcome Trust

Grant: WT223718/Z/21/Z

NINDS NIH HHS

Grant: R01 NS050375

NINDS NIH HHS

Grant: R01 NS127108

Wellcome Trust

FWCI

1.96

Citation Percentile

0.9%

Citation Trend

2025

greenLicense: cc-by

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC12339213/

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.64093

journalhttps://doi.org/10.1002/ajmg.a.64093

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40317680

Fields of Study

Genetics and Neurodevelopmental DisordersCongenital limb and hand anomaliesAutism Spectrum Disorder ResearchHumansPhenotypeMaleFemaleIntellectual DisabilityHaploinsufficiencyChildAdolescentTranscription FactorsChild, PreschoolCytoskeletal ProteinsE1A-Associated p300 ProteinGenetic Association StudiesRubinstein-Taybi SyndromeMutationAdult

MeSH Terms

AdolescentAdultChildChild, PreschoolCytoskeletal ProteinsFemaleHumansMaleIntellectual DisabilityMutationPhenotypeRubinstein-Taybi SyndromeTranscription FactorsE1A-Associated p300 ProteinGenetic Association StudiesHaploinsufficiency

Keywords

HaploinsufficiencyPhenotypeBiologyIntellectual disabilityCraniofacialGeneticsNeuroscienceGeneHuman geneticsAuts2Genotype‐phenotype

Sustainable Development Goals

SDG 0: Quality Education