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

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome

Clinical Genetics(2025)10.1111/cge.14697Source: DataRank Database

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome is a dataset published in Clinical Genetics (2025). On theSindex it has a DataRank of 0.390, placing it in the top 46.7% of the data-sharing corpus. It has been cited 9 times, with 8 citing works in its 1-hop citation network.

Top 47%percentile

0.390DataRank

Ranks in the top 47% for downstream scientific impact

Data paper Open Access9 citations · 8 citing works in its network

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 (8 grants)Impact (FWCI 8.64)OA: bronzeTopics (63)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 (1/3)

Dataset classification

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.

DataRank Breakdown

Base Score 89%Citation Network 11%

Base Score Contribution

0.345

From this paper's citation signal

Citation Network Contribution

0.0445

From 3 citing papers with measurable signal

Learn more about DataRank methodology →

Top 5 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 8 citers.

A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review
Genes20251 citations25 referencesContributes 0.028
Machine Learning Algorithms in EEG Analysis of Kleefstra Syndrome: Current Evidence and Future Directions
Sensors20251 citations38 referencesContributes 0.018
Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities
Frontiers in Genetics20261 citations109 referencesContributes 0.006
Genotype–phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients
Orphanet Journal of Rare Diseases20250 citations26 referencesContributes 0.000
Structural‐Based Design of GLP Inhibitors as Anticancer Agents: A Comprehensive in Silico Study Integrating 3D‐QSAR, Molecular Docking, MD Simulations, and Quantum Mechanical Calculations
ChemistrySelect20260 citations86 referencesContributes 0.000

Authors (16)

Seyda Kilic ORCID,Hailey Osika,Alisa Mo ORCID,Meg Quinn,Sonia Ballal

Live enrichment

PubMed:39746677 PMC:PMC12050201 OpenAlex:https://openalex.org/W4406002191

National Institute of Neurological Disorders and Stroke

Grant: K23NS119666

National Institutes of Health

Grant: 1RF1NS126547

National Institutes of Health

Grant: 5R01HL151368

National Institutes of Health

Grant: P50 HD105351

National Institutes of Health

Grant: T32GM007748

National Institutes of Health

Grant: K12HD052896

NHLBI NIH HHS

Grant: R01 HL151368

NINDS NIH HHS

Grant: RF1 NS126547

FWCI

8.64

Citation Percentile

1.0%

Citation Trend

2025

2026

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

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14697

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14697

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14697

journalhttps://doi.org/10.1111/cge.14697

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39746677

Fields of Study

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersChromatin Remodeling and CancerChromosome DeletionChromosomes, Human, Pair 9Heart Defects, CongenitalIntellectual DisabilityCraniofacial AbnormalitiesRetrospective StudiesHumansMaleFemaleInfantChild, PreschoolChildAdolescentAdultCohort StudiesGenotypePhenotypeHistone-Lysine N-MethyltransferaseKleefstra Syndrome

MeSH Terms

AdolescentAdultChildDevelopmental DisabilitiesChild, PreschoolChromosome DeletionChromosomes, Human, Pair 9EpilepsyFemaleGenotypeHeart Defects, CongenitalHumansInfantMaleIntellectual DisabilityPhenotypeHistone-Lysine N-MethyltransferaseRetrospective StudiesCohort StudiesCraniofacial AbnormalitiesGenetic Association Studies

Keywords

HaploinsufficiencyEpilepsyAutism spectrum disorderMedicineCohortAutismPediatricsGenotypeIntellectual disabilityPhenotypeNeurodevelopmental disorderInternal medicineGeneticsPsychiatryBiologyNeurodevelopmentKleefstra SyndromeEhmt1Genotype–phenotype Correlation9Q34.3 Deletion

Sustainable Development Goals

SDG 0: Good health and well-being