Evidence map›Paper›PMID 29855589›Full record

ArticleScientific reports2018

GWAS reveals loci associated with velopharyngeal dysfunction.

Jonathan Chernus, Jasmien Roosenboom, Matthew Ford, Myoung Keun Lee, Beth Emanuele, Joel Anderton, Jacqueline T Hecht, Carmencita Padilla, Frederic W B Deleyiannis, Carmen J Buxo and 5 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.1field-weighted citation impact, top 20% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 7 institutions in 3 countries.

Jonathan ChernusDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Jasmien RoosenboomCenter for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.
Matthew FordCleft Craniofacial Center, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Myoung Keun LeeCenter for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.
Beth EmanueleCenter for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.
Joel AndertonCenter for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.
Jacqueline T HechtDepartment of Pediatrics, McGovern Medical School and School of Dentistry UT Health at Houston, Houston, TX, 77030, USA.
Carmencita PadillaDepartment of Pediatrics, College of Medicine; and Institute of Human Genetics, National Institutes of Health; University of the Philippines Manila, Manila, 1101, The Philippines.
Frederic W B DeleyiannisDepartment of Surgery, Plastic and Reconstructive Surgery, University of Colorado School of Medicine, Denver, CO, 80045, USA.
Carmen J BuxoDental and Craniofacial Genomics Core, School of Dental Medicine, University of Puerto Rico, San Juan, 00936, Puerto Rico.
Eleanor FeingoldDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Elizabeth J LeslieDepartment of Human Genetics, Emory University School of Medicine, Emory University, Atlanta, GA, 30322, USA.
John R ShafferDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15261, USA.ORCID 0000-0003-1897-1131
Seth M WeinbergDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15261, USA. smwst46@pitt.edu.ORCID 0000-0001-9467-4556
Mary L MarazitaDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15261, USA. marazita@pitt.edu.
University of Pittsburgh · USChildren's Hospital of Pittsburgh · USEmory University · USNational Institutes of Health · USThe University of Texas Health Science Center at Houston · USUniversity of Colorado Denver · USUniversity of Puerto Rico System · PR

Funding

Hispanics in Research Capability: SoHP & SOM Partnership (HIREC)S21MD001830 · NIMHD · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI ELIAS BONETA, AUGUSTO R, ESTAPE, ESTELA S · 2005 to 2010
$30.0M
TECHNOLOGIES AND RESOURCES FOR CORE LABORATORIESU54MD007587 · NIMHD · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI LUCIANO, CARLOS A., NOBOA, CARIAMARIE · 2012 to 2018
$23.2M
Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7M
Molecular Genetic Epidemiology of Cleft Lip and PalateR37DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2013
$6.8M
Genetics of Craniofacial Disorders and Related PhenotypesR00DE025060 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LESLIE-CLARKSON, ELIZABETH JANE · 2017 to 2019
$732k
Planning International Orofacial Cleft Genetic StudiesR21DE016930 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L · 2006 to 2007
$293k
Genetic and Environmental Risks for Oral Clefts in Puerto Rican HispanicsK99DE024571 · NIDCR · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI BUXO, CARMEN J. · 2014 to 2015
$254k
NHLBI NIH HHS HHSN268201200008CNHLBI NIH HHS HHSN268201200008INIDCR NIH HHS K99 DE024571NIDCR NIH HHS R00 DE025060NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R21 DE016930NIDCR NIH HHS R37 DE008559NIMHD NIH HHS S21 MD001830NIMHD NIH HHS U54 MD007587
6 · The paper itself

Abstract

Velopharyngeal dysfunction (VPD) occurs when the muscular soft palate (velum) and lateral pharyngeal walls are physically unable to separate the oral and nasal cavities during speech production leading to hypernasality and abnormal speech reduction. Because VPD is often associated with overt or submucous cleft palate, it could be present as a subclinical phenotype in families with a history of orofacial clefting. A key assumption to this model is that the overt and subclinical manifestations of the orofacial cleft phenotype exist on a continuum and therefore share common etiological factors. We performed a genome-wide association study in 976 unaffected relatives of isolated CP probands, 54 of whom had VPD. Five loci were significantly (p < 5 × 10

Indexed as

Genome-Wide Association StudyAdolescentAdultAntigens, CDChildCholine-Phosphate CytidylyltransferaseCleft PalateDNA-Binding ProteinsFemaleGenetic LociGenotypeHumansLinkage DisequilibriumMaleMiddle AgedPolymorphism, Single NucleotideAntigens, CDBNC2 protein, humanCD71 antigenCholine-Phosphate CytidylyltransferaseDNA-Binding ProteinsPCYT1A protein, humanReceptors, Transferrin

Identifiers

PMID29855589
PMCPMC5981322
OpenAlexW2807375750

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.