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A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

medRxiv(2023)10.1101/2023.03.19.23287455Source: DataRank Database

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus is a research paper published in medRxiv (2023). On theSindex it has a DataRank of 0.104. It has been cited 1 time.

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0.104DataRank · unranked

Scored on demand from live citation data

Open Access1 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (12 grants)OA: greenTopics (19)IDs (PubMed, OpenAlex)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)

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DataRank Breakdown

Base Score 100%Citation Network 0%

Base Score Contribution

0.104

From this paper's citation signal

Citation Network Contribution

Citation network not refreshed for this result

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Authors (29)

Stephen Viviano ORCID,Garrett Allington ORCID,Stephen McGee ORCID,Emre Kiziltug,Kedous Y. Mekbib ORCID

Live enrichment

PubMed:36993720 OpenAlex:https://openalex.org/W4327916188

National Institutes of Health

Grant: 5R01HL109942-07

Genetic Predisposition To Thoracic Aortic Aneurysms/Dissections

National Institutes of Health

Grant: 5R01HD104938-03

Characterizing the spectrum of genomic and phenotypic variation in cerebral palsy

National Institutes of Health

Grant: 1R01NS111029-01A1

Human genetics and molecular mechanisms of congenital hydrocephalus

National Institutes of Health

Grant: 7R01NS109358-05

Modulation of Choroid Plexus Immuno-secretory Function to Restore Cerebrospinal Fluid Homeostasis in Hydrocephalus

National Institutes of Health

Grant: 3UM1HG006493-07S2

UW Center for Mendelian Genomics

National Institutes of Health

Grant: 1R21NS116484-01

Xenopus as a Model System for Hydrocephaly and Ependymal Ciliogenesis

National Institutes of Health

Grant: 5U24HG008956-02

NHGRI Genome Sequencing Program Coordinating Center

National Institutes of Health

Grant: 5R00HL143036-04

Integrative Genomic Analysis of Congenital Heart Disease

National Institutes of Health

Grant: 1U54HG006504-01

Yale Center for Mendelian Disorders

National Institutes of Health

Grant: 1R01NS127879-01

Analysis of Congenital Hydrocephalus Genes in Xenopus

NICHD NIH HHS

Grant: R01 HD104938

NINDS NIH HHS

Grant: R01 NS127879

green

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2023/03/20/2023.03.19.23287455.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2023.03.19.23287455

repositoryhttp://dx.doi.org/10.1101/2023.03.19.23287455

repositoryhttps://pubmed.ncbi.nlm.nih.gov/36993720

Fields of Study

Chromatin Remodeling and CancerFetal and Pediatric Neurological DisordersHedgehog Signaling Pathway Studies0303 health sciences03 medical and health sciences

Keywords

VentriculomegalyExome sequencingGeneticsBiologyExomeIn silicoCohortMutationBioinformaticsMedicineGenePathologyFetusPregnancy

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being