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

Loss of function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.06.578086Source: DataRank Database

Loss of function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly is a research paper published in bioRxiv (Cold Spring Harbor Laboratory) (2024). On theSindex it has a DataRank of 0. It has been cited 2 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access2 citations

Download PDF

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 (3 grants)OA: greenTopics (47)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 (28)

Kristy Jay,Alden Y. Huang,Jijun Wan ORCID,Sharayu Jangam ORCID,Odelia Chorin ORCID

Live enrichment

PubMed:19910364 OpenAlex:https://openalex.org/W4391792205

National Institutes of Health

Grant: 5U01HG007703-02

UCLA clinical site for the investigation of undiagnosed disorders

National Institutes of Health

Grant: 5T32GM008243-07

MEDICAL GENETICS - UCLA INTERCAMPUS PROGRAM

National Institutes of Health

Grant: 1U54NS093793-01

Leadership/Implementation Project

greenLicense: CC BY NC ND

repositoryhttps://www.biorxiv.org/content/biorxiv/early/2024/02/09/2024.02.06.578086.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2024.02.06.578086

repositoryhttps://doi.org/10.1101/2024.02.06.578086

https://doi.org/10.1016/j.gim.2024.101218

Fields of Study

Genetics and Neurodevelopmental DisordersEpigenetics and DNA MethylationGenomics and Rare Diseases03 medical and health sciences0303 health sciences

Keywords

MicrocephalyMissense mutationLoss functionBiologyGeneticsProbandPhenotypeAlleleNeurodevelopmental disorderDrosophila melanogasterMutationGeneMaleMedical SciencesAdolescentMutation, Missense610H3K4 methylationArticleBiomedical InformaticsLoss of Function MutationIntellectual DisabilityMedical SpecialtiesMedicine and Health Sciencesand ImmunityHumansAnimalsPreschoolChildRBBP5Biological PhenomenaCell PhenomenaLife SciencesEpigeneticGenetics and GenomicsSyndromeNeurodevelopmental DisordersMedical Molecular BiologyChild, PreschoolFemaleMissenseMedical Genetics

Sustainable Development Goals

SDG 0: Good health and well-being