Assessing the landscape of STXBP1-related disorders in 534 individuals is a dataset published in Brain (2021). On theSindex it has a DataRank of 2.3, placing it in the top 9.4% of the data-sharing corpus. It has been cited 125 times, with 59 citing works in its 1-hop citation network. Its calibrated FAIR score is 21/100.
Ranks in the top 9% for downstream scientific impact
Linked data & code
DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?
FAIR checklist signals are shown for context only and do not affect DataRank scoring.
Full FAIR picture · advisory
The headline score is computed from the scored criteria — the fact-shaped checks (a repository, an accession, a licence) that two independent models agree on. The advisory criteria below are real FAIR guidance but rest on judgment calls that models read differently, so they inform without moving the number.
“Primary data for this analysis are available in the Supplementary material.”— not found in the paper; verdict downgraded
No persistent identifier scheme (DOI, Handle, ARK, repository accession) is given for the dataset; only supplementary material is mentioned.
RDA-F1-01D — FAIR Data Maturity Model: 'Data is identified by a persistent identifier' (priorit · RDA-F1-02D — FAIR Data Maturity Model: 'Data is identified by a globally unique identifier' · FsF-F1-02D — F-UJI/FAIRsFAIR: 'Data is assigned a persistent identifier'
“Primary data for this analysis are available in the Supplementary material.”— not found in the paper; verdict downgraded
No repository is named as the holder; the data are placed in the article's supplementary material, which is not a curated repository.
RDA-F4-01M — FAIR Data Maturity Model: metadata is offered so it can be harvested and indexed ( · NIH DMS Policy Element 4 (NOT-OD-21-014) — name the repository where data will be archived · NSTC Desirable Characteristics of Data Repositories (2022) — 'Long-Term Sustainability', 'Reten
“Primary data for this analysis are available in the Supplementary material.”— not found in the paper; verdict downgraded
The dataset identifier appears only in the body text (data-availability statement) and not as a reference-list entry. [downgraded to 'no' — no verifiable quote from the paper]
FORCE11 Joint Declaration of Data Citation Principles (2014) — data should be cited as a first- · RDA-F3-01M — metadata clearly and explicitly includes the identifier of the data it describes · FsF-F3-01M — F-UJI: 'Metadata includes the identifier of the data it describes'
Advisory · not in the published score
“Primary data for this analysis are available in the Supplementary material . Computer code for HPO analysis, phenotypic similarity analysis, reconstruction of seizures and ASM history is available at github.com/helbig-lab/STXBP1.”
The data-availability statement points to the article's supplementary material (Colavizza category 2), not to a repository record. [majority verdict 'partial' (3/5 passes agreed)]
Colavizza, Hrynaszkiewicz, Staden, Whitaker & McGillivray (2020), 'The citation advantage of li · Springer Nature research data policy — Data Availability Statements: standard statement templat · RDA-F3-01M — metadata clearly and explicitly includes the identifier of the data it describes
“In the joint cohort of 534 individuals, we analysed a total of 5564 initially assigned (base) HPO terms, including 592 unique terms.”
The paper describes the dataset's content in running prose (size, number of terms) but does not provide an itemised inventory (section, table, or list) of files or variables. [majority verdict 'partial' (3/5 passes agreed)]
RDA-F2-01M — 'Rich metadata is provided to allow discovery' (priority Essential) · FsF-F2-01M — F-UJI: 'Metadata includes descriptive core elements to support data findability' · FsF-R1-01MD — F-UJI: 'Metadata specifies the content of the data'
“Primary data for this analysis are available in the Supplementary material.”— not found in the paper; verdict downgraded
The text gives a route (supplementary material) with no stated precondition; the data are freely available. [downgraded to 'partial' — no verifiable quote from the paper] [majority verdict 'partial' (3/5 passes agreed)]
RDA-A1.1-01D — 'Data is accessible through a free access protocol' · FsF-A1-01M — F-UJI: 'Metadata contains access level and access conditions of the data' · NSTC Desirable Characteristics of Data Repositories (2022) — 'Free and Easy Access'
Advisory · not in the published score
“Primary data for this analysis are available in the Supplementary material.”— not found in the paper; verdict downgraded
The paper states where the data are available but does not apply an explicit access-level label (e.g., 'open access') to the data itself. [downgraded to 'no' — no verifiable quote from the paper] [majority verdict 'no' (4/5 passes agreed)]
FsF-A1-01M — F-UJI: 'Metadata contains access level and access conditions of the data' · RDA-A1-01M — metadata contains information to enable the user to get access to the data · COAR Controlled Vocabularies — Access Rights v1.0 (open / embargoed / restricted / metadata-onl
“Primary data for this analysis are available in the Supplementary material.”— not found in the paper; verdict downgraded
The data are openly available in the supplementary material; no gatekeeper is named, and the data are not described as sensitive or subject to controlled access.
NIH Genomic Data Sharing Policy (NOT-OD-14-124) — controlled-access via a Data Access Committee · RDA-A1.2-01D — 'Data is accessible through an access protocol that supports authentication and · NIH DMS Policy Element 5 (NOT-OD-21-014) — Access, Distribution, or Reuse Considerations (conse
No sentence in the paper addresses how long the data will be available or any retention commitment.
NIH DMS Plan Element 4 (NOT-OD-21-014) — Data Preservation, Access, and Associated Timelines · NSTC Desirable Characteristics (2022), Organizational Infrastructure: 'Retention Policy' · RDA-A2-01M — 'Metadata is guaranteed to remain available after data is no longer available'
No file format is named for the released data; the paper only mentions 'Supplementary material' without specifying a format.
FsF-R1.3-02D — F-UJI: 'Data is available in a file format recommended by the target research co · RDA-R1.3-02D — data is expressed in a machine-understandable community standard · RDA-I1-01D — data uses a knowledge representation expressed in a standardised format
Advisory · not in the published score
“Mapping of phenotypic features to Human Phenotype Ontology terms”
The paper names and applies the Human Phenotype Ontology (HPO), a community-standard vocabulary, to its data. [majority verdict 'yes' (4/5 passes agreed)]
RDA-R1.3-01M — 'Metadata complies with a community standard' (priority Essential) · RDA-R1.3-01D — 'Data complies with a community standard' · RDA-I2-01M — '(Meta)data use vocabularies that follow FAIR principles'
No identifier (accession, DOI, RRID, build ID) is given for any external resource that the data depend on or derive from. [majority verdict 'no' (3/5 passes agreed)]
RDA-I3-01M — '(meta)data include references to other (meta)data' · RDA-I3-03M — 'metadata includes qualified references to other metadata' · FsF-I3-01M — F-UJI: 'Metadata includes links between the data and its related entities'
The paper states a CC BY license for the article but does not explicitly attach any license to the data itself. [majority verdict 'no' (3/5 passes agreed)]
RDA-R1.1-01M — 'Metadata includes information about the licence under which the data can be reu · RDA-R1.1-02M — 'Metadata refers to a standard reuse licence' · RDA-R1.1-03M — 'Metadata refers to a machine-understandable reuse licence'
No version token or date is given for the released dataset; the data are referred to as a static snapshot without versioning information.
DataCite Metadata Schema 4.6 — the 'Version' property · RDA-R1.2-01M — provenance information (which version was used is provenance) · NSTC Desirable Characteristics of Data Repositories (2022) — 'Provenance', 'Retention Policy'
“Computer code for HPO analysis, phenotypic similarity analysis, reconstruction of seizures and ASM history is available at github.com/helbig-lab/STXBP1.”
A machine-resolvable locator (GitHub URL) is provided for the study's own code. [majority verdict 'yes' (4/5 passes agreed)]
NIH DMS Policy Element 2 (NOT-OD-21-014) — 'Related Tools, Software and/or Code' · FAIR4RS Principles v1.0 (Chue Hong et al., 2022; RDA/FORCE11/ReSA) — FAIR Principles for Resear · FORCE11 Software Citation Principles (Smith, Katz & Niemeyer, 2016, PeerJ CS 2:e86)
“National Institute for Neurological Disorders and Stroke K02 NS112600”
A specific award number (K02 NS112600) is given, attached to a named funder. [majority verdict 'yes' (4/5 passes agreed)]
DataCite Metadata Schema 4.6 — 'FundingReference' property (funderName, funderIdentifier, award · Crossref Funder Registry — canonical funder identifiers for funding metadata · RDA-F2-01M — rich metadata provided to allow discovery (funding is part of the descriptive reco
Advisory · not in the published score
“We then performed automatic reasoning (propagation) to infer higher-level clinical features based on the ontological structure of the HPO tree as previously reported.”— not found in the paper; verdict downgraded
The data production methods are described in generic terms without naming specific instruments, kits, or software versions. [downgraded to 'no' — no verifiable quote from the paper] [majority verdict 'no' (4/5 passes agreed)]
RDA-R1.2-01M — 'Metadata includes provenance information according to community- specific standa · FsF-R1.2-01M — F-UJI: 'Metadata includes provenance information about data creation or generati · W3C PROV-O (W3C Recommendation, 2013) — the entity/activity/agent model of provenance
“Primary data for this analysis are available in the Supplementary material.”— not found in the paper; verdict downgraded
No documentation object (README, data dictionary, codebook) is said to accompany the data; the paper does not describe a separate file defining variables.
RDA-R1-01M — '(Meta)data are richly described with a plurality of accurate and relevant attribu · FsF-R1-01MD — F-UJI: 'Metadata specifies the content of the data' · NIH DMS Policy Element 3 (NOT-OD-21-014) — Standards (documentation and metadata to accompany t
Calibrated FAIR score — a parallel quality metric, independent of the DataRank citation score. See the full evaluation →
Base Score Contribution
0.725
From this paper's citation signal
Citation Network Contribution
1.6
From 46 citing papers with measurable signal
Ranked by each citer's contribution to N(p) — log1p(Cq) divided by its reference count — out of 59 citers.
NINDS NIH HHS
Grant: K02 NS112600
NCATS NIH HHS
Grant: UL1 TR001878
NICHD NIH HHS
Grant: P50 HD105351
NINDS NIH HHS
Grant: T32 NS091008
Medical Research Council
Grant: MC_UU_00005/16
NINDS NIH HHS
Grant: U24 NS120854
NICHD NIH HHS
Grant: U54 HD086984
NINDS NIH HHS
Grant: K23 NS107646
NINDS NIH HHS
Grant: K23 NS121520
Medical Research Council
Grant: MC_UU_00030/3
Wellcome Trust
Fields of Study
MeSH Terms
Keywords
Additional file 1 of Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China
Additional file 1 of Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China
Additional file 2 of Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China
Additional file 2 of Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China
Additional file 3 of Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China
Additional file 3 of Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China