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

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460Source: DataRank Database

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia is a research paper published in Brain (2023). On theSindex it has a DataRank of 0.992. It has been cited 35 times, with 26 citing works in its 1-hop citation network.

N/A

0.992DataRank · unranked

Scored on demand from live citation data

Open Access35 citations · 26 citing works in its network

Download PDF

Cite:

Linked data & code

refseq

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 (22 grants)Impact (FWCI 3.26)OA: hybridTopics (52)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (2)

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.

DataRank Breakdown

Base Score 54%Citation Network 46%

Base Score Contribution

0.538

From this paper's citation signal

Citation Network Contribution

0.454

From 22 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 26 citers.

Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum
Clinical Genetics20252 citations11 referencesContributes 0.100
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Journal of Clinical Investigation202343 citations81 referencesContributes 0.047
Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4
Clinical Genetics20245 citations39 referencesContributes 0.046
SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis
Annals of Clinical and Translational Neurology202412 citations57 referencesContributes 0.045
The individual isoforms of ORMDL, the regulatory subunit of serine palmitoyltransferase, have distinctive sensitivities to ceramide
bioRxiv (Cold Spring Harbor Laboratory)20253 citations34 referencesContributes 0.041

Authors (98)

Hagar Mor Shaked,Kenneth Gable ORCID,Sita D. Gupta ORCID,Xueyang Pan ORCID,Niranjanakumari Somashekarappa ORCID

Live enrichment

PubMed:36718090 PMC:PMC10319774 OpenAlex:https://openalex.org/W4318668410

NIH Common Fund

Grant: U01HG007672

CDMRP

Grant: W81XWH-20-1-0219

NIH-NINDS

Grant: K23 1K23NS119666

NIH-NINDS

Grant: U54NS115052

NIH-NINDS

Grant: U54NS093793

NIH-GM

Grant: R01GM143282

NIH-ORIP

Grant: R24OD022005

NINDS NIH HHS

Grant: K22 NS104135

NINDS NIH HHS

Grant: K23 NS119666

NICHD NIH HHS

Grant: P50 HD105351

National Institutes of Health

Grant: 1U54NS093793-01

Leadership/Implementation Project

National Institutes of Health

Grant: 5R24OD022005-03

A Comprehensive Human cDNA Library For Functional Gene Replacement in Drosophila

National Institutes of Health

Grant: 5R01GM143282-02

Structural and Functional Studies of Human Serine Palmitoyltransferase Complexes

National Institutes of Health

Grant: 1K23NS119666-01A1

Investigating the Genetic Landscape of Cerebral Palsy

National Institutes of Health

Grant: 5U01HG007672-04

An integrated and diverse genomic medicine program for undiagnosed diseases

National Institutes of Health

Grant: 3U54NS115052-03S1

Utility of advanced MRI and wearable technology to identify sensory motor outcome measures in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)

Connolly Family Charitable Fund

Huffington Foundation

Office of Strategic Coordination

Mass General Hospital Howard M. Goodman Fellowship

Margaret Q. Landenberger Research Foundation

Office of the NIH Director

FWCI

3.26

Citation Percentile

0.9%

Citation Trend

2023

2024

2025

2026

hybridLicense: public-domain

journalhttps://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awac460/48957491/awac460.pdf

publisherhttps://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awac460/48957491/awac460.pdf

publisherhttps://academic.oup.com/brain/article-pdf/146/4/1420/50800066/awac460.pdf

journalhttps://doi.org/10.1093/brain/awac460

repositoryhttps://pubmed.ncbi.nlm.nih.gov/36718090

Fields of Study

Sphingolipid Metabolism and SignalingLysosomal Storage Disorders ResearchCellular transport and secretion03 medical and health sciences0303 health sciences

MeSH Terms

AnimalsCell MembraneChildHumansMammalsSphingolipidsSpastic Paraplegia, HereditarySerine C-Palmitoyltransferase

Keywords

SphingolipidHereditary spastic paraplegiaBiologyCell biologySerineLeukodystrophyProtein subunitGeneticsPhenotypeInternal medicineMedicineDiseaseGeneSphingolipidsSerine PalmitoyltransferaseSptssaOrmdlsMedical SciencesSerine C-Palmitoyltransferase610Biomedical InformaticsMedical SpecialtiesMedicine and Health SciencesSpastic Paraplegiaand ImmunityAnimalsHumansChildBiological PhenomenaMammalsSpastic Paraplegia, HereditaryCell PhenomenaCell MembraneLife SciencesGenetics and Genomics540HereditaryMedical Molecular BiologyMedical Genetics

Sustainable Development Goals

SDG 2: 2. Zero hungerSDG 3: 3. Good health

Related Papers (1)

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

N/A

0.605DataRank · unranked

npj Genomic Medicine(2023)

co-cited

10.1038/s41525-022-00343-8

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

FAIR Checklist

DataRank Breakdown

Top 5 citers driving the network score

Authors (98)

Funding (22 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)

Related Papers (1)