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

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204Source: DataRank Database

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder is a research paper published in Brain (2020). On theSindex it has a DataRank of 0. It has been cited 59 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access59 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 (12 grants)OA: bronzeTopics (36)IDs (PubMed)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.

Authors (100)

Fanny Kortüm,Georg Christoph Korenke,Malik Alawi ORCID,René Santer ORCID,Mathias Woidy

Live enrichment

PubMed:32761064

Deutsche Forschungsgemeinschaft

Grant: KU 1240/10-1

Deutsche Forschungsgemeinschaft

Grant: KO 4576/1-2

Federal Ministry of Education and Research

Grant: 01DQ17003

Ministry of Health of the Czech Republic

Grant: NV19-07-00136

Ministry of Health of the Czech Republic

Grant: RVO VFN 64165

Office of Strategic Coordination

Grant: U01HG007672

Office of Strategic Coordination

Grant: U01HG007942

Charles University in Prague

Grant: UNCE/MED/007

Charles University in Prague

Grant: PROGRES-Q26/LF1

Deutsche Forschungsgemeinschaft

Grant: unidentified

unidentified

NIH HHS

Grant: S10 OD018522

NIH HHS

Grant: S10 OD026880

bronzeLicense: OUP Standard Publication Reuse

publisherhttps://academic.oup.com/brain/article-pdf/143/8/2437/33773872/awaa204.pdf

publisherhttp://academic.oup.com/brain/article-pdf/143/8/2437/33773872/awaa204.pdf

repositoryhttps://lirias.kuleuven.be/retrieve/87b996b9-d548-47e3-a4d4-fffe8262ad87

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/7447524

https://doi.org/10.1093/brain/awaa204

Fields of Study

0301 basic medicine0303 health sciences03 medical and health sciencesDeath Domain Receptor Signaling Adaptor ProteinsDevelopmental DisabilitiesGuanine Nucleotide Exchange FactorsHumansMutationNervous System DiseasesPhenotypeProtein TransportSignal Transduction

MeSH Terms

Death Domain Receptor Signaling Adaptor ProteinsDevelopmental DisabilitiesGuanine Nucleotide Exchange FactorsHumansMutationNervous System DiseasesPhenotypeProtein TransportSignal Transduction

Keywords

Death Domain Receptor Signaling Adaptor ProteinsDevelopmental DisabilitiesProtein TransportPhenotypeMutationGuanine Nucleotide Exchange FactorsHumansHuman medicineNervous System DiseasesSignal TransductionDENNHSANintellectual disabilitymultisystemwhole-exome sequencing

Sustainable Development Goals

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