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Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

Genes(2023)10.3390/genes14122157Source: DataRank Database

Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region is a research paper published in Genes (2023). On theSindex it has a DataRank of 0.

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Enrichment:Funding (5 grants)Impact (FWCI 0.00)OA: goldTopics (55)IDs (PubMed, PMC, OpenAlex)Annotations (2)SDGs (3)

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Findable (1/2)

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Accessible (0/2)

Interoperable (0/2)

Reusable (0/3)

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Authors (10)

Gioia Mastromoro ORCID,Bárbara Torres ORCID,Enrica Marchionni ORCID,Francesca di Palma,Marina Goldoni

Live enrichment

PubMed:38136979 PMC:PMC10742575 OpenAlex:https://openalex.org/W4389144417

Italian Ministry of Health

Grant: RC2301GM01

Wellcome Trust

Grant: WT223718/Z/21/Z

Wellcome Trust

Grant: 223718

DECIPHER

Wellcome Trust

FWCI

0.00

Citation Percentile

0.2%

goldLicense: cc-by

journalhttps://www.mdpi.com/2073-4425/14/12/2157/pdf?version=1701244673

publisherhttps://www.mdpi.com/2073-4425/14/12/2157/pdf?version=1701244673

publisherhttps://www.mdpi.com/2073-4425/14/12/2157/pdf

journalhttps://doi.org/10.3390/genes14122157

repositoryhttps://pubmed.ncbi.nlm.nih.gov/38136979

Fields of Study

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersCongenital heart defects research0301 basic medicine0303 health sciences03 medical and health sciencesMaleHumansChild, PreschoolPhenotypeTranscription FactorsNeurodevelopmental DisordersIntellectual DisabilityFamilyMicrofilament Proteins

MeSH Terms

Child, PreschoolFamilyHumansMaleIntellectual DisabilityMicrofilament ProteinsPhenotypeTranscription FactorsNeurodevelopmental Disorders

Keywords

PenetranceProbandIntellectual disabilityGeneticsGene duplicationExome sequencingPhenotypeSpeech delayNeurodevelopmental disorderConcordanceChromosomal regionMedicineBiologyMutationGeneChromosomeChromosomal Microarray AnalysisNeurodevelopmental DelayCopy Number GainKptnBicra19Q13.32q13.33 MicroduplicationMaleneurodevelopmental delay; BICRA; KPTN; copy number gain; 19q13.32q13.3 microduplication; chromosomal microarray analysisMicrofilament ProteinsCase ReportNeurodevelopmental DisordersChild, PreschoolHumansFamilyTranscription Factors

Sustainable Development Goals

SDG 3: 3. Good healthSDG 10: 10. No inequalitySDG 0: Good health and well-being

Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

FAIR Checklist

Authors (10)

Funding (5 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)