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Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61720Source: DataRank Database

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning is a research paper published in American Journal of Medical Genetics Part A (2020). On theSindex it has a DataRank of 0. It has been cited 7 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access7 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (2 grants)Impact (FWCI 0.64)OA: greenTopics (58)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 (4)

Lynne M. Bird ORCID,Nicole Fleischer ORCID,Omar Abdul‐Rahman ORCID,Diego A. Gomez ORCID

Live enrichment

PubMed:32524756 PMC:PMC12096522 OpenAlex:https://openalex.org/W3033362069

National Institutes of Health

Grant: U54 HD061222

National Institutes of Health

Grant: U54 RR019478

FWCI

0.64

Citation Percentile

0.7%

Citation Trend

2020

2021

2023

2024

2025

greenLicense: http://onlinelibrary.wiley.com/termsAndConditions#vor

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/12096522

publisherhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.61720

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61720

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.61720

Fields of Study

Genetic Syndromes and ImprintingPrenatal Screening and DiagnosticsEpigenetics and DNA MethylationAdolescentAdultAngelman SyndromeChildChild, PreschoolDeep LearningFaceFemaleGenomic ImprintingHumansInfantMaleMaternal InheritancePhenotypeUbiquitin-Protein LigasesUniparental DisomyYoung Adult

MeSH Terms

Maternal InheritanceDeep LearningAdolescentAdultChildChild, PreschoolFaceFemaleHumansInfantMalePhenotypeAngelman SyndromeGenomic ImprintingUniparental DisomyUbiquitin-Protein LigasesYoung Adult

Keywords

Angelman syndromeUBE3AImprinting (psychology)EtiologyPhenotypeGeneticsUniparental disomyBiologyGenomic imprintingReceiver operating characteristicLocus (genetics)MedicineGenePathologyInternal medicineChromosomeGene expressionArtificial intelligenceDeep LearningFacial PhenotypingImprinting Defects

Sustainable Development Goals

SDG 0: Peace, Justice and strong institutions