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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Journal of Clinical Investigation(2021)10.1172/jci142148Source: DataRank Database

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy is a research paper published in Journal of Clinical Investigation (2021). On theSindex it has a DataRank of 1.2. It has been cited 27 times, with 25 citing works in its 1-hop citation network.

N/A

1.2DataRank · unranked

Scored on demand from live citation data

Deposits data Open Access27 citations · 25 citing works in its network

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Linked data & code

geo gen dbgap refseq nct

Data availability

Repositories this paper deposited data in (declared in PubMed).

ClinicalTrials.govNCT01196182

DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (20 grants)OA: bronzeTopics (36)IDs (PubMed, PMC)Annotations (5)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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DataRank Breakdown

Base Score 42%Citation Network 58%

Base Score Contribution

0.500

From this paper's citation signal

Citation Network Contribution

0.695

From 19 citing papers with measurable signal

Learn more about DataRank methodology →

Top 5 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 25 citers.

Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!
Fetal and Pediatric Pathology20223 citations7 referencesContributes 0.198
Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy
European Journal of Human Genetics202213 citations36 referencesContributes 0.073
Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report
Journal of Medical Case Reports20233 citations21 referencesContributes 0.066
SMAD4 loss-of-function mutation predisposes to congenital heart disease
European Journal of Medical Genetics202218 citations56 referencesContributes 0.053
Fetal phenotypes of Mendelian disorders: A descriptive study from India
Prenatal Diagnosis202213 citations51 referencesContributes 0.052

Authors (56)

Alex V. Postma ORCID,Christian Salazar,Daniel M. De Laughter,Fleur V.Y. Tjong ORCID,Lenka Piherová ORCID

Live enrichment

PubMed:33645542 PMC:PMC7919725

Dutch Heart Foundation

Grant: CVON 2018-30 PREDICT2

Dutch Heart Foundation

Grant: CVON2014-18 CONCOR-GENES

NIH

Grant: R35GM128666

NIH

Grant: R01GM084251

NHLBI NIH HHS

Grant: UM1 HL098162

NHLBI NIH HHS

Grant: UM1 HL128761

NHLBI NIH HHS

Grant: UM1 HL128711

NHLBI NIH HHS

Grant: UM1 HL172717

NHLBI NIH HHS

Grant: U01 HL131003

NHLBI NIH HHS

Grant: UM1 HL098123

NHLBI NIH HHS

Grant: UM1 HL098147

NIGMS NIH HHS

Grant: T32 GM092714

National Institutes of Health

Grant: 5UM1HL128761-02

Genetics of Hypoplastic Left Heart Syndrome

National Institutes of Health

Grant: 2UM1HL098147-07

The Genomic Basis of Congenital Heart Disease and Neurodevelopmental Outcomes

National Institutes of Health

Grant: 5UM1HL098123-09

Genetics of conotruncal defects and associated neurodevelopmental outcomes

National Institutes of Health

Grant: 5T32GM092714-07

SBU Chemistry-Biology Interface Training Program

National Institutes of Health

Grant: 5R35GM128666-03

Structural and Functional Studies of the Lipid Metabolizing Enzymes Phospholipase D and Lipin

National Institutes of Health

Grant: 5UM1HL128711-04

Bridging the Gap between Genomics and Clinical Outcomes in CHD

National Institutes of Health

Grant: 5U01HL131003-05

Administrative Coordinating Center: Cardiovascular Development and Pediatric Cardiac Genomics Consortia

National Institutes of Health

Grant: 1R01GM084251-01A1

Lipid signaling pathways regulating mitochondrial morphology, energetics, and mov

bronzeLicense: CC BY

publisherhttp://www.jci.org/articles/view/142148/files/pdf

publisherhttps://www.jci.org/articles/view/142148/files/pdf

repositoryhttps://pure.rug.nl/ws/files/179809508/Biallelic_loss_of_function_variants_in_PLD1_cause_congenital_right_sided_cardiac_valve_defects.pdf

repositoryhttps://pure.amsterdamumc.nl/ws/files/160614894/Biallelic-loss-of-function-variants-in-pld1-cause-congenital-right-sided-cardiac-valve-defects-and-neonatal-cardiomyopat.pdf

repositoryhttps://pure.amc.nl/en/publications/biallelic-lossoffunction-variants-in-pld1-cause-congenital-rightsided-cardiac-valve-defects-and-neonatal-cardiomyopathy(088c3a0d-d44e-4b80-93f6-0f91dacdaa9b).html

Fields of Study

0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

HumansHeart Defects, CongenitalHeart Valve DiseasesPhospholipase DAllelesFemaleMaleLoss of Function Mutation

Keywords

GeneticsCardiovascular diseaseHeart FailureGenetic diseasesCardiologyHeart Defects, CongenitalMaleGROWTH-FACTOR-BETAMUTATIONSINDUCTIONHeart Valve DiseasesFACTOR-ALPHAGeneral MedicineHEART-DISEASETRANSFORMATIONPHOSPHOLIPASE-D DEFINES2700 MedicineD1DESIGNLoss of Function MutationPhospholipase DHumansCRYSTAL-STRUCTUREFemaleAlleles

Sustainable Development Goals

SDG 3: 3. Good health