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Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

American Heart Journal(2020)10.1016/j.ahj.2020.03.023Source: DataRank Database

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants is a research paper published in American Heart Journal (2020). On theSindex it has a DataRank of 0. It has been cited 50 times.

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Open Access50 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (11 grants)Impact (FWCI 3.33)OA: hybridTopics (82)IDs (PubMed, OpenAlex)SDGs (2)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

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Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (32)

Judith M.A. Verhagen ORCID,Raquel Yotti ORCID,Alireza Haghighi ORCID,Dean Phelan ORCID,Paul A. James ORCID

Live enrichment

PubMed:32480058 OpenAlex:https://openalex.org/W3018849542

National Institutes of Health

Grant: 5R01HL080494-16

Defining Genetic Architecture and Pathways of DCM

National Institutes of Health

Grant: 1F30HL147389-01

Characterizing the mechanism of loss-of-function mutations in ALPK3 in the pathogenesis of cardiomyopathy

National Institutes of Health

Grant: 2R01HL084553-10A1

Genetic Signals in Ventricular Hypertrophy

National Institutes of Health

Grant: 5UM1HG008900-04

Joint Center for Mendelian Genomics

Fondation Leducq

Centro de Investigación Biomédica en Red Enfermedades Cardiovasculares

National Health and Medical Research Council

Hartstichting

National Institutes of Health

Erasmus Universiteit Rotterdam

Howard Hughes Medical Institute

FWCI

3.33

Citation Percentile

0.9%

Citation Trend

2020

2021

2022

2023

2024

2025

2026

hybridLicense: cc-by

journalhttps://www.sciencedirect.com/science/article/pii/S0002870320301174/pdf

publisherhttps://www.sciencedirect.com/science/article/pii/S0002870320301174/pdf

publisherhttps://api.elsevier.com/content/article/PII:S0002870320301174?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0002870320301174?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.ahj.2020.03.023

Fields of Study

Cardiomyopathy and Myosin StudiesGenomics and Rare DiseasesNeurogenetic and Muscular Disorders Research0301 basic medicine03 medical and health sciences0302 clinical medicineAbnormalities, MultipleAdultAge of OnsetCardiomyopathiesCardiomyopathy, DilatedCardiomyopathy, HypertrophicChildChild, PreschoolChromosomes, Human, Pair 15EchocardiographyElectrocardiographyHeterozygoteHumansInfantLoss of Function MutationMuscle ProteinsMutation, MissensePhenotypeProtein Kinases

MeSH Terms

Abnormalities, MultipleLoss of Function MutationAdultCardiomyopathy, DilatedCardiomyopathy, HypertrophicChildChild, PreschoolChromosomes, Human, Pair 15EchocardiographyElectrocardiographyHeterozygoteHumansInfantMuscle ProteinsCardiomyopathiesPhenotypeProtein KinasesAge of OnsetMutation, Missense

Keywords

Missense mutationMedicineCardiomyopathyDilated cardiomyopathyInternal medicineCompound heterozygosityCohortCardiologyPhenotypeGeneticsHeart failureGeneBiologyAdultCardiomyopathy, DilatedHeterozygoteMutation, MissenseMuscle ProteinsCLASSIFICATIONElectrocardiographyLoss of Function MutationHumansAbnormalities, MultipleAge of OnsetChildChromosomes, Human, Pair 15HYPERTROPHIC CARDIOMYOPATHYInfantASSOCIATIONCardiomyopathy, HypertrophicPREVALENCEEchocardiographyChild, PreschoolCELLSCardiomyopathiesGENOMICSProtein KinasesEMC COEUR-09

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being