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

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

Genetics in Medicine(2023)10.1016/j.gim.2023.101057Source: DataRank Database

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities is a research paper published in Genetics in Medicine (2023). On theSindex it has a DataRank of 0. It has been cited 11 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access11 citations

Download PDF

Cite:

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?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (7 grants)Impact (FWCI 1.38)OA: hybridTopics (53)Linked Datasets (8)DataCite Reuse (8)IDs (PubMed, OpenAlex)

FAIR Checklist

Context only (not used in score)

Findable (2/2)

Has DOI
Indexed in repositories

Accessible (1/2)

Open Access

Interoperable (2/2)

DataCite relations
Linked datasets

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 (28)

Kamal Khan ORCID,Claire Bénéteau ORCID,Rachel Fox ORCID,Sandra von Hardenberg ORCID,Ayaz Khan ORCID

Live enrichment

PubMed:38158856 OpenAlex:https://openalex.org/W4390245745

National Institute of Mental Health

Grant: R00MH119327

National Institute of Mental Health

Grant: R01MH106826

National Institute of Child Health and Human Development

Grant: R01HD105868

Ministero della Salute

Grant: RF-2016-02361949

National Institutes of Health

Grant: 5R00MH119327-04

The role of autism susceptibility genes in the 16p11.2 locus on the development and function of human stem cell-derived neural cells

National Institutes of Health

Grant: 1R01HD105868-01

Genomics and functional dissection of fetal brain abnormalities using a prenatal cohort

National Institutes of Health

Grant: 5R01MH106826-10

Functional Dissection of CNVs in Neurodevelopmental Traits

FWCI

1.38

Citation Percentile

0.8%

Citation Trend

2024

2026

hybridLicense: cc-by

journalhttp://www.gimjournal.org/article/S1098360023010730/pdf

publisherhttp://www.gimjournal.org/article/S1098360023010730/pdf

publisherhttps://api.elsevier.com/content/article/PII:S1098360023010730?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1098360023010730?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.gim.2023.101057

Fields of Study

Hedgehog Signaling Pathway StudiesGenomics and Rare DiseasesGenetic and Kidney Cyst Diseases0303 health sciences03 medical and health sciencesAnimalsHumansAbnormalities, MultipleCraniofacial AbnormalitiesIntellectual DisabilityMusculoskeletal AbnormalitiesNeurodevelopmental DisordersPhenotypeSyndromeZebrafish

MeSH Terms

Abnormalities, MultipleAnimalsHumansIntellectual DisabilityMusculoskeletal AbnormalitiesPhenotypeSyndromeZebrafishCraniofacial AbnormalitiesNeurodevelopmental Disorders

Keywords

Neurodevelopmental disorderLoss functionFacial dysmorphismZebrafishBiologyExome sequencingPhenotypeGeneticsCraniofacialJoubert syndromePathologyMedicineGeneCACHD1Neurodevelopmental disordersSyndromeCACHD1; facial abnormalities; human stem cell-derived neural progenitors; neurodevelopmental disorders; voltage-gated Calcium channels; zebrafishMusculoskeletal AbnormalitiesCraniofacial AbnormalitiesHuman stem cell-derived neural progenitorsIntellectual DisabilityVoltage-gated calcium channelsAnimalsHumansAbnormalities, MultipleAbnormalitiesCACHD1; Human stem cell-derived neural progenitors; Neurodevelopmental disorders; Voltage-gated calcium channels; ZebrafishMultiple

Additional file 2 of Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality

10.6084/m9.figshare.26754613.v1figshare

Additional file 2 of Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality

10.6084/m9.figshare.26754613figshare

Additional file 3 of Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality

10.6084/m9.figshare.26754616.v1figshare

Additional file 3 of Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality

10.6084/m9.figshare.26754616figshare

Additional file 1 of Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality

10.6084/m9.figshare.26754610.v1figshare

Additional file 4 of Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality

10.6084/m9.figshare.26754619figshare

Additional file 4 of Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality

10.6084/m9.figshare.26754619.v1figshare

Additional file 1 of Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality

10.6084/m9.figshare.26754610figshare