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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.10.002Source: DataRank Database

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism is a research paper published in The American Journal of Human Genetics (2020). On theSindex it has a DataRank of 0. It has been cited 42 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access42 citations

Cite:

Linked data & code

gen omim refseq doi

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 (18 grants)Impact (FWCI 2.93)OA: bronzeTopics (114)Linked Datasets (6)DataCite Reuse (6)IDs (PubMed, PMC, OpenAlex)Annotations (4)SDGs (1)

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)

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Authors (58)

Qiumeng Zhang ORCID,Rujia Dai ORCID,Bin Yu ORCID,Kendra Hoekzema ORCID,Jieqiong Tan ORCID

Live enrichment

PubMed:33157009 PMC:PMC7674997 OpenAlex:https://openalex.org/W3097947115

Central South University

Grant: 2020CX042

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Grant: 310030_185292

National Natural Science Foundation of China

Grant: 81330027

National Natural Science Foundation of China

Grant: 81871079

National Natural Science Foundation of China

Grant: 81671122

National Natural Science Foundation of China

Grant: 8173000779

National Natural Science Foundation of China

Grant: 81525007

National Institutes of Health

Grant: MH101221

Swiss National Science Foundation

Grant: 185292

The genetic basis of combined pituitary hormone deficiency and pituitary neoplams

NIMH NIH HHS

Grant: R01 MH101221

NICHD NIH HHS

Grant: P50 HD103524

Swiss National Science Foundation

Grant: 310030

National Institutes of Health

Grant: 4R01MH101221-04

Sporadic Mutations and Autism Spectrum Disorders

Howard Hughes Medical Institute

State Government of Victoria

U.S. Department of Health and Human Services

Simons Foundation

JPB Foundation

FWCI

2.93

Citation Percentile

0.9%

Citation Trend

2021

2022

2023

2024

2025

2026

bronzeLicense: Elsevier Non-Commercial

journalhttps://www.cell.com/ajhg/pdf/S0002-9297(20)30360-8.pdf

publisherhttps://www.cell.com/ajhg/pdf/S0002-9297(20)30360-8.pdf

publisherhttps://api.elsevier.com/content/article/PII:S0002929720303608?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0002929720303608?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.ajhg.2020.10.002

Fields of Study

Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesCongenital heart defects research0301 basic medicine0303 health sciences03 medical and health sciencesAdaptor Proteins, Signal TransducingAdolescentAnimalsAutism Spectrum DisorderCerebral CortexChildFemaleGene ExpressionGenotypeHEK293 CellsHumansIntellectual DisabilityLearning DisabilitiesMaleMiceMice, KnockoutMutationNeurogliaNeuronsPedigreePhenotypePregnancyProtein IsoformsRNA, Small InterferingTranscriptomeYoung Adult

MeSH Terms

Autism Spectrum DisorderAdolescentAnimalsCerebral CortexChildFemaleGenotypeHumansLearning DisabilitiesMaleIntellectual DisabilityMutationNeurogliaNeuronsPedigreePhenotypePregnancyGene ExpressionMice, KnockoutProtein IsoformsRNA, Small InterferingAdaptor Proteins, Signal TransducingMiceYoung AdultHEK293 CellsTranscriptome

Keywords

AutismIntellectual disabilityNeurodevelopmental disorderPhenotypeMissense mutationAutism spectrum disorderBiologyNeuroscienceNeural developmentDevelopmental disorderGeneticsPsychologyGenePsychiatryGenotype-phenotype CorrelationNckap1De Novo VariantsDisruptive VariantDYNAMICSMaleGene ExpressionDISEASEMiceRAREPregnancyProtein IsoformsRNA, Small InterferingChild11 Medical and Health SciencesGenetics & HeredityRISKCerebral CortexMice, KnockoutNeuronsLearning DisabilitiesPedigreeFemaleLife Sciences & BiomedicineNeurogliaGENESAdolescentGenotypeYoung AdultAnimalsHumansAdaptor Proteins, Signal TransducingScience & Technology42 Health sciencesDISABILITY31 Biological sciences32 Biomedical and clinical sciences06 Biological SciencesHEK293 CellsDE-NOVO MUTATIONSMutationTranscriptome

Sustainable Development Goals

SDG 0: Quality Education

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