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Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64006Source: DataRank Database

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant is a research paper published in American Journal of Medical Genetics Part A (2025). On theSindex it has a DataRank of 0. It has been cited 4 times.

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Open Access4 citations

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Enrichment:Funding (6 grants)Impact (FWCI 3.87)OA: hybridTopics (37)IDs (PubMed, PMC, OpenAlex)Annotations (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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Authors (11)

Louisa Kalsner ORCID,Jessica M. Ewald ORCID,Michael Peracchio,Cameron King,Purva Vats

Live enrichment

PubMed:39876536 PMC:PMC12052494 OpenAlex:https://openalex.org/W4406936454

NIH NCI

Grant: P30CA034196

NIGMS NIH HHS

Grant: R35 GM133600

Connecticut Children's Research Institute

Jackson Laboratory for Genomic Medicine

Connecticut Children's Research Institute

FWCI

3.87

Citation Percentile

0.9%

Citation Trend

2025

2026

hybridLicense: cc-by-nc-nd

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64006

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64006

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.64006

journalhttps://doi.org/10.1002/ajmg.a.64006

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39876536

Fields of Study

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesCongenital heart defects researchHumansDevelopmental DisabilitiesEye AbnormalitiesGenetic Association StudiesHeterozygoteMutation, Missensep21-Activated KinasesPhenotypeRetinal Detachment

MeSH Terms

Developmental DisabilitiesChild, PreschoolEye AbnormalitiesFemaleHeterozygoteHumansInfantMalePhenotypeRetinal DetachmentMutation, Missensep21-Activated KinasesGenetic Association Studies

Keywords

PhenotypeFailure to thriveGeneticsBiologyMissense mutationHypotoniaBioinformaticsGenekinaseDevelopmental DisorderPak2Knobloch Syndrome Type 2