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Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

UNC Libraries(2020)10.17615/d4h2-zc14Source: DataRank Database

Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia is a research paper published in UNC Libraries (2020). On theSindex it has a DataRank of 0.

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (1 grants)Impact (FWCI 0.00)OA: greenTopics (40)IDs (PubMed, OpenAlex)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 (19)

Benjamin T Levinson,Emily H. Turner ORCID,Michael R. Knowles ORCID,Amjad Horani ORCID,Thomas W. Ferkol ORCID

Live enrichment

PubMed:19162232 OpenAlex:https://openalex.org/W4300025679

National Institutes of Health

Grant: 5F32GM093598-02

Molecular and genetic analysis of a novel basal body and nucleolar protein

FWCI

0.00

Citation Percentile

0.3%

greenLicense: Elsevier Non-Commercial

repositoryhttps://doi.org/10.17615/d4h2-zc14

https://doi.org/10.1016/j.ajhg.2012.08.022

http://www.cell.com/article/S000292971200434X/pdf

https://dx.doi.org/10.17615/d4h2-zc14

https://pubmed.ncbi.nlm.nih.gov/23040496

Fields of Study

Medical Imaging and Pathology StudiesCystic Fibrosis Research AdvancesEpigenetics and DNA Methylation0301 basic medicine0303 health sciences03 medical and health sciences

Keywords

Primary ciliary dyskinesiaExome sequencingMutationGeneticsCiliumDyskinesiaBiologyMedicineComputational biologyGeneInternal medicineDiseaseLungBronchiectasisAdultMaleKartagener SyndromeRespiratory SystemMutation, MissenseInfantProteinsChromosome DisordersEpithelial CellsGenes, RecessiveAxonemal DyneinsSequence Analysis, DNAYoung AdultHumansGenetics(clinical)ExomeFemaleGenetic Predisposition to DiseaseChildChlamydomonas reinhardtii

Sustainable Development Goals

SDG 0: Zero hunger