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Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

Human Molecular Genetics(2020)10.1093/hmg/ddaa073Source: DataRank Database

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies is a research paper published in Human Molecular Genetics (2020). On theSindex it has a DataRank of 0. It has been cited 19 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access19 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (8 grants)Impact (FWCI 1.12)OA: bronzeTopics (75)IDs (PubMed, PMC, OpenAlex)Annotations (1)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 (10)

John N. Griffin ORCID,Thomas Arbogast,Tanner O. Monroe ORCID,Flavia Palombo ORCID,Marcella Martinelli ORCID

Live enrichment

PubMed:32307552 PMC:PMC7268788 OpenAlex:https://openalex.org/W3017365378

National Institutes of Health

Grant: HD042601

National Institutes of Health

Grant: GM121317

National Institutes of Health

Grant: DK072301

National Institutes of Health

Grant: 5T32DK108738-04

NUKIDs: Scientist Training Program in Kidney Disease

NIDDK NIH HHS

Grant: R01 DK072301

NIGMS NIH HHS

Grant: R01 GM121317

NICHD NIH HHS

Grant: R01 HD042601

NIDDK NIH HHS

Grant: T32 DK108738

FWCI

1.12

Citation Percentile

0.8%

Citation Trend

2020

2021

2022

2023

2024

2025

2026

bronzeLicense: OUP Standard Publication Reuse

journalhttps://academic.oup.com/hmg/article-pdf/29/9/1489/33340136/ddaa073.pdf

publisherhttps://academic.oup.com/hmg/article-pdf/29/9/1489/33340136/ddaa073.pdf

publisherhttp://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddaa073/33285203/ddaa073.pdf

publisherhttp://academic.oup.com/hmg/article-pdf/29/9/1489/33340136/ddaa073.pdf

journalhttps://doi.org/10.1093/hmg/ddaa073

Fields of Study

Genetic and Kidney Cyst DiseasesRenal and related cancersPrenatal Screening and Diagnostics0301 basic medicine0303 health sciences03 medical and health sciencesAnimalsCRISPR-Cas SystemsCiliaCiliopathiesCongenital AbnormalitiesCraniofacial AbnormalitiesExomeFemaleHeart Defects, CongenitalHomozygoteHumansLoss of Function MutationMaleNeurodevelopmental DisordersPedigreePhenotypeExome SequencingZebrafish

MeSH Terms

Congenital AbnormalitiesCiliopathiesExome SequencingLoss of Function MutationAnimalsCiliaFemaleHeart Defects, CongenitalHomozygoteHumansMalePedigreePhenotypeZebrafishCraniofacial AbnormalitiesExomeCRISPR-Cas SystemsNeurodevelopmental Disorders

Keywords

CiliopathiesZebrafishExome sequencingCiliumBiologyCraniofacialPhenotypeLoss functionGeneticsFrameshift mutationGenetic heterogeneityCiliopathyCraniofacial abnormalityMorpholinoNeurodevelopmental disorderGeneHeart Defects, CongenitalMaleHomozygote610576Congenital AbnormalitiesPedigreeCraniofacial AbnormalitiesLoss of Function MutationNeurodevelopmental Disordersccdc32, whole exome sequencing, zebrafish modelAnimalsHumansExomeFemaleCiliaCRISPR-Cas Systems

Sustainable Development Goals

SDG 3: 3. Good health

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

FAIR Checklist

Authors (10)

Funding (8 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)