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Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

Journal of Medical Internet Research(2021)10.2196/21023Source: DataRank Database

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study is a research paper published in Journal of Medical Internet Research (2021). On theSindex it has a DataRank of 0. It has been cited 13 times.

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Open Access13 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 0.85)OA: goldTopics (38)IDs (PubMed, PMC, OpenAlex)SDGs (3)

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 (19)

Margaret A. Hojlo ORCID,Sampath Chennuri ORCID,Nitin Gujral ORCID,Heather Paterson ORCID,Kent A Shefchek ORCID

Live enrichment

PubMed:33724192 PMC:PMC8074853 OpenAlex:https://openalex.org/W3136843123

NICHD NIH HHS

Grant: U54 HD090255

National Institutes of Health

Grant: 5U54HD090255-05

Boston Intellectual and Developmental Disabilities Research Center

FWCI

0.85

Citation Percentile

0.7%

Citation Trend

2022

2023

2024

2025

2026

goldLicense: cc-by

journalhttps://www.jmir.org/2021/3/e21023/PDF

publisherhttps://www.jmir.org/2021/3/e21023/PDF

publisherhttps://www.jmir.org/2021/3/e21023

journalhttps://doi.org/10.2196/21023

repositoryhttps://pubmed.ncbi.nlm.nih.gov/33724192

Fields of Study

Williams Syndrome ResearchGenomic variations and chromosomal abnormalitiesImmunodeficiency and Autoimmune Disorders0301 basic medicine03 medical and health sciences0302 clinical medicine

MeSH Terms

Biological Variation, PopulationFamilyHumansPhenotypeCohort StudiesDNA Copy Number Variations

Keywords

MedicineAnxietyCohortPsychologyPsychiatryInternal medicineGeneticsPhenotypeIncomplete PenetranceCopy Number VariationDigital HealthOnline SurveyHuman Phenotype Ontology16P13.11 Microduplication SyndromeSelf-phenotypingVariable PresentationOriginal PaperDNA Copy Number VariationsComputer applications to medicine. Medical informaticsR858-859.7Cohort StudiesBiological Variation, PopulationHumansFamilyPublic aspects of medicineRA1-1270

Sustainable Development Goals

SDG 3: 3. Good healthSDG 10: 10. No inequalitySDG 16: 16. Peace & justice