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A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis

Genetics in Medicine(2025)10.1016/j.gim.2025.101569Source: DataRank Database

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis is a research paper published in Genetics in Medicine (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 (1 grants)Impact (FWCI 0.00)OA: closedTopics (61)IDs (PubMed, OpenAlex)

FAIR Checklist

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Accessible (0/2)

Interoperable (0/2)

Reusable (0/3)

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Authors (20)

Chen Itzkovich,Alina Kurolap ORCID,Mordechai Shohat,Alexandra Dürr ORCID,Jean‐Madeleine de Sainte Agathe ORCID

Live enrichment

PubMed:40856104 OpenAlex:https://openalex.org/W4413452473

National Institutes of Health

Grant: P40OD018537

FWCI

0.00

Citation Percentile

0.2%

closedLicense: https://www.elsevier.com/legal/tdmrep-license

publisherhttps://api.elsevier.com/content/article/PII:S1098360025002163?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1098360025002163?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.gim.2025.101569

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40856104

Fields of Study

Hereditary Neurological DisordersGenetic Neurodegenerative DiseasesNeurological diseases and metabolismHumansAnimalsDevelopmental DisabilitiesDrosophila melanogasterMaleFemaleChildAutism Spectrum DisorderFounder EffectMicrotubule-Associated ProteinsParaparesis, SpasticExome SequencingMutationAdultSaccharomyces cerevisiaePhenotypePedigreeChild, PreschoolAdolescentHomozygote

MeSH Terms

Autism Spectrum DisorderExome SequencingAdolescentAdultAnimalsChildDevelopmental DisabilitiesChild, PreschoolDrosophila melanogasterFemaleHomozygoteHumansMaleMicrotubule-Associated ProteinsMutationPedigreePhenotypeSaccharomyces cerevisiaeFounder EffectParaparesis, Spastic

Keywords

AutismFounder effectGlobal developmental delayMedicineAutism spectrum disorderGeneticsPediatricsPsychiatryBiologyPhenotypeHaplotypeGeneGenotypeTubulinHereditary Spastic ParaplegiaAutism SpectrumAshkenazi JewishTbcb

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis

FAIR Checklist

Authors (20)

Funding (1 grants)

Impact

Open Access

Topics