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

Kallmann Syndrome: Functional Analysis of a CHD7 Missense Variant Shows Aberrant RNA Splicing

International Journal of Molecular Sciences(2024)10.3390/ijms252212061Source: DataRank Database

Kallmann Syndrome: Functional Analysis of a CHD7 Missense Variant Shows Aberrant RNA Splicing is a research paper published in International Journal of Molecular Sciences (2024). On theSindex it has a DataRank of 0. It has been cited 1 time.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access1 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 (5 grants)Impact (FWCI 0.39)OA: goldTopics (40)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)

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 (4)

Catarina Gonçalves ORCID,José Maria Aragüés,Manuel C. Lemos ORCID,Josianne Nuñes Carriço ORCID

Live enrichment

PubMed:39596130 PMC:PMC11594180 OpenAlex:https://openalex.org/W4404223854

Portuguese Foundation for Science and Technology

Grant: PTDC/SAU-GMG/098419/2008

Portuguese Foundation for Science and Technology

Grant: UIDB/00709/2020

Portuguese Foundation for Science and Technology

Grant: 2020.04924.BD

Portuguese Foundation for Science and Technology

Grant: CEECINST/00016/2021/CP2828/CT0002

Intramural NIH HHS

Grant: Z01 CT000002

FWCI

0.39

Citation Percentile

0.7%

Citation Trend

2025

goldLicense: cc-by

journalhttps://www.mdpi.com/1422-0067/25/22/12061/pdf?version=1731210487

publisherhttps://www.mdpi.com/1422-0067/25/22/12061/pdf?version=1731210487

publisherhttps://www.mdpi.com/1422-0067/25/22/12061/pdf

journalhttps://doi.org/10.3390/ijms252212061

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39596130

Fields of Study

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesRNA and protein synthesis mechanismsCholesterol and Lipid MetabolismKallmann SyndromeHumansMutation, MissenseRNA SplicingDNA HelicasesMaleDNA-Binding ProteinsExonsFemaleAdult

MeSH Terms

AdultDNA HelicasesDNA-Binding ProteinsExonsFemaleHumansMaleRNA SplicingKallmann SyndromeMutation, Missense

Keywords

Missense mutationRNA splicingGeneticsBiologyKallmann syndromeRNAGeneMutationMedicineInternal medicineDiseaseFertilitySplicingChd7VusVariant Of Uncertain SignificanceCongenital Hypogonadotropic Hypogonadism

Sustainable Development Goals

SDG 0: Good health and well-being