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Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.015Source: DataRank Database

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder is a research paper published in The American Journal of Human Genetics (2025). On theSindex it has a DataRank of 0.

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (9 grants)Impact (FWCI 0.00)OA: greenTopics (36)IDs (PubMed, OpenAlex)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (26)

Maayke A. de Koning ORCID,Kamal Khan ORCID,Kelly L. Gilmore ORCID,Mariëtte J.V. Hoffer ORCID,Georgios Kellaris

Live enrichment

PubMed:40930097 OpenAlex:https://openalex.org/W4414145573

Indo-French Centre for the Promotion of Advanced Research

Grant: 6503-J

National Institute of Child Health and Human Development

Grant: R01HD105868

National Institute of Mental Health

Grant: R01MH106826

National Institutes of Health

Feinberg School of Medicine

Northwestern University

Higher Education Commision, Pakistan

Institut National de la Santé et de la Recherche Médicale

French National Research Agency

FWCI

0.00

Citation Percentile

0.2%

greenLicense: cc-by-nc-nd

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC12500174/

publisherhttps://api.elsevier.com/content/article/PII:S0002929725003258?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0002929725003258?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.ajhg.2025.08.015

Fields of Study

Cellular transport and secretionLysosomal Storage Disorders ResearchAutophagy in Disease and Therapy

MeSH Terms

Exome SequencingAllelesAnimalsAutophagyBrainDyneinsFemaleHumansMaleMutationPedigreePregnancyZebrafishZebrafish ProteinsVesicular Transport ProteinsNeurodevelopmental Disorders

Keywords

ZebrafishExome sequencingTranscriptomeNeurodevelopmental disorderGene expression profilingMutantGeneMutationAutophagyRetrograde TransportNeural Crest DevelopmentSnapinTranscriptomic ProfilingPrenatal SequencingSnare-associated ProteinDynein AdapterLc3-ii Accumulation