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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63559Source: DataRank Database

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay is a research paper published in American Journal of Medical Genetics Part A (2024). On theSindex it has a DataRank of 0. It has been cited 7 times.

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Open Access7 citations

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Enrichment:Funding (5 grants)Impact (FWCI 2.74)OA: hybridTopics (53)IDs (PubMed, PMC, OpenAlex)Annotations (3)SDGs (2)

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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 (32)

Angela Morgan ORCID,Meghan N. Bartos ORCID,Katelyn Beatty,Benjamin Cogné ORCID,Dominique Braun ORCID

Live enrichment

PubMed:38421105 PMC:PMC11161320 OpenAlex:https://openalex.org/W4392285678

National Human Genome Research Institute

Grant: U01HG009599

Dutch Organization for Health Research and Development

Grant: 912-12-109

Dutch Organization for Health Research and Development

Grant: 917-86-319

Alabama Genomic Health Initiative

Grant: F170303004

National Institutes of Health

Grant: 5U01HG009599-02

Genomic sequencing to aid diagnosis in pediatric and prenatal practice: Examining clinical utility, ethical implications, payer coverage, and data integration in a diverse population.

FWCI

2.74

Citation Percentile

0.9%

Citation Trend

2024

2025

2026

hybridLicense: cc-by-nc-nd

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63559

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63559

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63559

journalhttps://doi.org/10.1002/ajmg.a.63559

repositoryhttps://pubmed.ncbi.nlm.nih.gov/38421105

Fields of Study

Genetics and Neurodevelopmental DisordersGenetics, Aging, and Longevity in Model OrganismsCongenital heart defects research03 medical and health sciences0303 health sciences

MeSH Terms

ChildChild, PreschoolFemaleHumansInfantLanguage Development DisordersMaleNeoplasm ProteinsPhenotypeGenetic Predisposition to DiseaseHaploinsufficiency

Keywords

HaploinsufficiencyBiologyGeneticsLoss functionDrosophila melanogasterPhenotypeGeneMissense mutationDevelopmental DelayIntellectual DisabilitySpeech DelaySpeech ArticulationDip2Dip2cMaleTrastorns del llenguatgePHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Allelic Imbalance::Loss of Heterozygosity::Haploinsufficiency610FENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo::predisposición genética a la enfermedadHuman Genetics - Radboud University Medical Center - DCMNDISEASES::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Communication Disorders::Language Disorders::Language Development DisordersFENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipoPHENOMENA AND PROCESSES::Genetic Phenomena::PhenotypeENFERMEDADES::afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::trastornos de la comunicación::trastornos del lenguaje::trastornos del desarrollo del lenguajeHumansGenetic Predisposition to DiseaseLanguage Development DisordersChildInfantPHENOMENA AND PROCESSES::Genetic Phenomena::Genotype::Genetic Predisposition to DiseaseNeoplasm ProteinsFenotipAnomalies cromosòmiquesChild, PreschoolFemaleMalalties congènitesFENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::desequilibrio alélico::pérdida de heterocigosidad::haploinsuficiencia

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Quality Education

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

FAIR Checklist

Authors (32)

Funding (5 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)