Pilot corpus: NIH-funded biomedical datasets. Any DOI can be scored on demand — network effects sharpen as coverage grows.

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1544Source: DataRank Database

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature is a research paper published in Molecular Genetics & Genomic Medicine (2020). On theSindex it has a DataRank of 0. It has been cited 15 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access15 citations

Free full text

Cite:

DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (12 grants)Impact (FWCI 1.37)OA: goldTopics (39)IDs (PubMed, 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)

FAIR checklist signals are shown for context only and do not affect DataRank scoring.

Run a calibrated FAIR evaluation for this paper →

We only score data papers we can read in full — never from an abstract alone.

Authors (10)

Ellen F. Macnamara ORCID,Precilla D’Souza ORCID,John Yang ORCID,Gilbert Vézina ORCID,Undiagnosed Diseases Network

Live enrichment

PubMed:33159716 OpenAlex:https://openalex.org/W3096340360

National Human Genome Research Institute

Grant: 1ZIAHG000215‐17

Medical Research Council

Grant: MC_UP_A620_1015

Medical Research Council

Grant: MC_U147585827

Medical Research Council

Grant: MC_UU_12011/2

Medical Research Council

Grant: MC_U147585819

Medical Research Council

Grant: MC_UP_A620_1014

Medical Research Council

Grant: MC_U147585824

Intramural NIH HHS

Grant: ZIA HG000215

Department of Health

Grant: 10/33/04

Medical Research Council

Grant: MC_UU_12011/1

Medical Research Council

Grant: G0400491

NICHD NIH HHS

Grant: P50 HD103525

FWCI

1.37

Citation Percentile

0.8%

Citation Trend

2021

2022

2023

2024

2025

2026

goldLicense: cc-by

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.1544

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.1544

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1544

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1544

journalhttps://doi.org/10.1002/mgg3.1544

Fields of Study

Down syndrome and intellectual disability researchGenetics and Neurodevelopmental DisordersTraumatic Brain Injury ResearchChildChild, PreschoolEye AbnormalitiesFemaleHumansIntellectual DisabilityMicrocephalyMutationPhenotypeProtein Serine-Threonine KinasesProtein-Tyrosine KinasesSyndromeDyrk Kinases

MeSH Terms

Dyrk KinasesChildChild, PreschoolEye AbnormalitiesFemaleHumansIntellectual DisabilityMicrocephalyMutationPhenotypeProtein-Tyrosine KinasesSyndromeProtein Serine-Threonine Kinases

Keywords

Intellectual disabilityMedicineGeneticsBioinformaticsBiologyDYRK1ADown syndromeautosomal dominant mental retardation 7feeding difficultiesmicrocephaly

Sustainable Development Goals

SDG 0: Quality Education