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

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039Source: DataRank Database

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders is a research paper published in Brain (2023). On theSindex it has a DataRank of 0. It has been cited 12 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access12 citations

Download PDF

Cite:

Linked data & code

ensembl omim refseq uniprot

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 (23 grants)OA: hybridTopics (59)IDs (PubMed, PMC)Annotations (4)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 (100)

Tracy Lau ORCID,Homa Tajsharghi ORCID,Ehsan Ghayoor Karimiani ORCID,Ariana Kariminejad ORCID,Yichao Yu ORCID

Live enrichment

PubMed:36757831 PMC:PMC10393417

US National Institutes of Health

Grant: R35 NS105078

European Union

Grant: H2020-MSCA-ITN-2017

Medical Research Council

Grant: G0601943

MRC Centre for Neuromuscular Diseases in Children and Adults

Medical Research Council

Grant: MR/S01165X/1

Leveraging the power of genomics and transcriptomics to revolutionise the diagnosis and understanding of neurological disorders

NICHD NIH HHS

Grant: R01 HD104938

NHGRI NIH HHS

Grant: UM1 HG006542

NHGRI NIH HHS

Grant: U01 HG011758

NICHD NIH HHS

Grant: P50 HD105351

Medical Research Council

Grant: MR/S005021/1

MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases

National Institute for Health Research (NIHR)

Grant: NIHR205088

Wellcome Trust

Grant: WT093205MA

Canadian Institutes of Health Research

Grant: unidentified

unidentified

Wellcome Trust

Grant: 104033

Synaptopathies: genetics, biophysics and circuit mechanisms of paroxysmal neurological disorders.

National Institutes of Health

Grant: 3R35NS105078-02S1

STRUCTURAL VARIATION IN NEUROLOGICAL DISEASE

Wellcome Trust

Grant: 093205

Development of an Institute of Neurology Next Generation Sequencing Facility Equipment Grant.

National Institutes of Health

Grant: 3UM1HG006542-05S1

Baylor Johns Hopkins Center for Mendelian Genetics

National Institutes of Health

Grant: 1U01HG011758-01

Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)

National Institutes of Health

Grant: 1R01HD104938-01A1

Characterizing the spectrum of genomic and phenotypic variation in cerebral palsy

Canada Foundation for Innovation

Deutsche Forschungsgemeinschaft

Canadian Institutes of Health Research

National Heart, Lung, and Blood Institute

National Human Genome Research Institute

hybridLicense: cc-by

publisherhttps://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad039/49144844/awad039.pdf

publisherhttps://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad039/50183714/awad039.pdf

publisherhttps://academic.oup.com/brain/article-pdf/146/8/3273/51018345/awad039.pdf

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC10393417/pdf/awad039.pdf

repositoryhttp://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889

Fields of Study

0303 health sciences03 medical and health sciences

MeSH Terms

HumansDystonic DisordersNervous System MalformationsDystoniaMolecular ChaperonesCross-Sectional StudiesPhenotypeMutationMale

Keywords

NddTorsin-1aBiallelic VariationAmc5Arthrogryposis Multiplex Congenita 5MaleMedical Sciences[SDV]Life Sciences [q-bio]AMC5; arthrogryposis multiplex congenita 5; biallelic variation; NDD; Torsin-1APHENOTYPEMedical Genetics and GenomicsMedical SpecialtiesMedicine and Health Sciences11 Medical and Health SciencesBiological PhenomenaCell PhenomenaLife SciencesMedicinsk genetik och genomik17 Psychology and Cognitive Sciences[SDV] Life Sciences [q-bio]DystoniaDystonic DisordersMedical Molecular Biology52 PsychologyOriginal ArticleMedical GeneticsLife Sciences & BiomedicineTORSINAARTHROGRYPOSISClinical Neurology610Nervous System MalformationsBiomedical Informatics618MOVEMENTand ImmunityHumansMedicinsk genetikScience & TechnologyNeurology & Neurosurgery42 Health sciencesNeurosciencesGenetics and Genomics32 Biomedical and clinical sciencesCross-Sectional StudiesMutationNeurosciences & NeurologyMolecular Chaperones

Sustainable Development Goals

SDG 3: 3. Good health

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

FAIR Checklist

Authors (100)

Funding (23 grants)

Open Access

Topics

Annotations (Europe PMC)