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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.005Source: DataRank Database

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage is a research paper published in The American Journal of Human Genetics (2023). On theSindex it has a DataRank of 0. It has been cited 17 times.

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Open Access17 citations

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Enrichment:Funding (25 grants)Impact (FWCI 2.97)OA: greenTopics (79)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (1)

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 (47)

Davut Pehli̇van ORCID,Damián Heine‐Suñer ORCID,Karin Weiss ORCID,Thibault Coste ORCID,Markus Zweier ORCID

Live enrichment

PubMed:36996813 PMC:PMC10119151 OpenAlex:https://openalex.org/W4361283089

NINDS NIH HHS

Grant: R35 NS105078

NHGRI NIH HHS

Grant: K08 HG008986

NINDS NIH HHS

Grant: K23 NS125126

NHGRI NIH HHS

Grant: U01 HG011758

European Commission

Grant: 952346

Boosting the Rare Disease research and innovation capacity of the Izmir Biomedicine and Genome Center

Canadian Institutes of Health Research

Grant: unidentified

unidentified

Newton Fund

Canada Foundation for Innovation

Ministero della Salute

National Institute of Neurological Disorders and Stroke

Turkish Academy of Sciences

University of Pavia

Addenbrooke's Hospital

European Research Council

Swiss National Science Foundation

Medical Research Council

TÜBİTAK

NIHR Cambridge Biomedical Research Centre

Universität Zürich

Canadian Institutes of Health Research

Carlos III Health Institute

Canada Research Chairs Program

Fondation Leducq

National Human Genome Research Institute

National Institutes of Health

FWCI

2.97

Citation Percentile

0.9%

Influential Citations

Citation Trend

2023

2024

2025

2026

greenLicense: Elsevier Non-Commercial

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC10119151/pdf/main.pdf

HYBRIDhttps://doi.org/10.1016/j.ajhg.2023.03.005

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC10119151/pdf/main.pdf

publisherhttps://api.elsevier.com/content/article/PII:S0002929723000897?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0002929723000897?httpAccept=text/plain

Fields of Study

Intracerebral and Subarachnoid Hemorrhage ResearchBarrier Structure and Function StudiesEpigenetics and DNA MethylationMedicine03 medical and health sciences0303 health sciencesAnimalsMiceAllelesBrain DiseasesCell Adhesion MoleculesEndothelial CellsIntracranial HemorrhagesNervous System MalformationsNeurodevelopmental DisordersTight JunctionsHumans

MeSH Terms

AllelesAnimalsBrain DiseasesHumansNervous System MalformationsCell Adhesion MoleculesTight JunctionsIntracranial HemorrhagesEndothelial CellsMiceNeurodevelopmental Disorders

Keywords

AlleleIntracerebral hemorrhageBiologyPhenotypeHydrocephalusNeurodevelopmental disorderVentriculomegalyBlood–brain barrierMutationFetusGeneGeneticsMedicineCentral nervous systemNeurosciencePregnancyInternal medicineEpilepsyBlood-Brain BarrierretinopathyTight junctionsPregnancy LossIntellectual DisabilityNeurodevelopmental DisordersIntracranial HemorrhageExome SequencingGlobal Developmental DelayEsamMedical Sciences610Nervous System MalformationsBiomedical Informatics576MiceMedical SpecialtiesMedicine and Health Sciencesand ImmunityAnimalsHumansAllelesBiological PhenomenaBrain DiseasesCell PhenomenaLife SciencesEndothelial CellsGenetics and GenomicsESAM. blood-brain barrierMedical Molecular BiologyMedical GeneticsCell Adhesion MoleculesIntracranial Hemorrhages

Sustainable Development Goals

SDG 0: Good health and well-being