Evidence map›Paper›PMID 32784565›Full record

ArticleGenes2020

A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate.

Beau Sylvester, Frederick Brindopke, Akiko Suzuki, Melissa Giron, Allyn Auslander, Richard L Maas, Becky Tsai, Hanlin Gao, William Magee, Timothy C Cox and 1 more

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

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 21% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. 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

11 authors at 7 institutions in 2 countries.

Beau SylvesterDivision of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.ORCID 0000-0003-4917-408X
Frederick BrindopkeOperation Smile Global Headquarters, Virginia Beach, WV 23453, USA.
Akiko SuzukiDepartment of Oral & Craniofacial Sciences, University of Missouri-Kansas City School of Dentistry, Kansas City, MO 64108, USA.ORCID 0000-0003-3163-8093
Melissa GironOperación Sonrisa Honduras, Tegucigalpa 11101, Honduras.
Allyn AuslanderDivision of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Richard L MaasDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Becky TsaiFulgent Genetics, Temple City, CA 91780, USA.ORCID 0000-0002-1995-802X
Hanlin GaoFulgent Genetics, Temple City, CA 91780, USA.
William MageeDivision of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Timothy C CoxDepartment of Oral & Craniofacial Sciences, University of Missouri-Kansas City School of Dentistry, Kansas City, MO 64108, USA.ORCID 0000-0001-8015-5528
Pedro A Sanchez-LaraDepartment of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.ORCID 0000-0003-1181-7828
Children's Hospital of Los Angeles · USUniversity of Missouri–Kansas City · USBrigham and Women's Hospital · USCedars-Sinai Medical Center · USHonduras Foundation for Agricultural Research · HNOperation PAR · USUniversity of Southern California · US

Funding

Rapid Identification and Validation of Human Craniofacial Development GenesU01DE024443 · NIDCR · BRIGHAM AND WOMEN'S HOSPITAL · PI MAAS, RICHARD L · 2014 to 2018
$2.9M
NIDCR NIH HHS U01 DE024443
6 · The paper itself

Abstract

Missense, nonsense, splice site and regulatory region variants in interferon regulatory factor 6 (

Indexed as

MutationAlternative SplicingAnimalsChlorocebus aethiopsCleft LipCleft PalateCOS CellsFemaleInterferon Regulatory FactorsMalePedigreeRNA Splice SitesInterferon Regulatory FactorsIRF6 protein, humanRNA Splice Sitesalternative splicingcryptic splice siteIRF6non-syndromic cleft lip with or without palatesilent substitutionsplicing enhancersplicing silencersynonymousVan der Woude syndrome

Identifiers

PMID32784565
PMCPMC7465030
OpenAlexW3048277788

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.