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Phenotypic expansion of CALM1/2 -associated disorders to include neurologic phenotypes without arrhythmia

Human Molecular Genetics(2025)10.1093/hmg/ddaf195Source: DataRank Database

Phenotypic expansion of CALM1/2 -associated disorders to include neurologic phenotypes without arrhythmia is a research paper published in Human Molecular Genetics (2025). On theSindex it has a DataRank of 0.

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Enrichment:Funding (6 grants)Impact (FWCI 0.00)OA: greenTopics (53)IDs (PubMed, PMC, OpenAlex)Annotations (3)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 (29)

Rebecca C. Spillmann,David A. Wenger ORCID,Maria Giovanna Tedesco ORCID,Malene Brohus ORCID,Antonio Novelli ORCID

Live enrichment

PubMed:41467504 PMC:PMC13103743 OpenAlex:https://openalex.org/W7117663977

Danish National Research Foundation

Grant: 10.46540/2032-00333B

Novo Nordisk Foundation

Grant: NNF23OC0081817

National Institute of Neurological Disorders and Stroke of the National Institutes of Health

Grant: U54NS108251

National Institute of Neurological Disorders and Stroke of the National Institutes of Health

Grant: U01HG007672

NINDS NIH HHS

Grant: U01 NS134354

Novo Nordisk Foundation

Grant: unidentified

unidentified

FWCI

0.00

Citation Percentile

0.6%

greenLicense: OUP Standard Publication Reuse

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC13103743/

publisherhttps://academic.oup.com/hmg/article-pdf/35/3/ddaf195/66152928/ddaf195.pdf

journalhttps://doi.org/10.1093/hmg/ddaf195

repositoryhttps://pubmed.ncbi.nlm.nih.gov/41467504

Fields of Study

Cardiac electrophysiology and arrhythmiasCongenital heart defects researchCardiomyopathy and Myosin Studies0303 health sciences03 medical and health sciencesHumansPhenotypeMaleArrhythmias, CardiacCalmodulinFemaleMutation, MissensePedigreeAnimalsNervous System DiseasesChildCaenorhabditis elegans

MeSH Terms

AnimalsArrhythmias, CardiacCalmodulinChildFemaleHumansMaleNervous System DiseasesPedigreePhenotypeCaenorhabditis elegansMutation, Missense

Keywords

Missense mutationPhenotypeProbandMendelian inheritanceAlleleCatecholaminergic polymorphic ventricular tachycardiaSudden deathCardiac arrhythmiaPenetranceCalmodulinSplicingC. ElegansMissense VariantPhenotypic ExpansionMaleMutation, MissenseArrhythmias, CardiacPedigreeHumansAnimalsFemaleNervous System DiseasesChildCaenorhabditis elegans

Sustainable Development Goals

SDG 0: Good health and well-being

Phenotypic expansion of CALM1/2 -associated disorders to include neurologic phenotypes without arrhythmia

FAIR Checklist

Authors (29)

Funding (6 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)