Evidence map›Paper›PMID 31817908›Full record

Trial reportGenes2019

Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports

Iris Alm van Rooij, Kerstin U Ludwig, Julia Welzenbach, Nina Ishorst, Michelle Thonissen, Tessel E Galesloot, Edwin Ongkosuwito, Stefaan J Bergé, Khalid Aldhorae, Augusto Rojas-Martinez and 10 more

Open access · goldAbstract readClinical TrialMulticenter Study
In one paragraph

Trial report in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
4.1field-weighted citation impact, top 6% 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

22 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Damaging Mutations inThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2024
    Article
  6. Article
  7. Article
  8. Article
  9. The impact of developmental genes in non-syndromic cleft lip and/or palateJournal of the Turkish German Gynecological Association · 2023
    Article
  10. Article
  11. Article
  12. Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2022
    Article
  13. [Exploring the association betweenBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2022
    Article
  14. Genetic architecture of orbital telorism.Human molecular genetics · 2022
    Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. 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

20 authors at 5 institutions in 6 countries.

Iris Alm van RooijDepartment for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, 6500 HB Nijmegen, The Netherlands.ORCID 0000-0002-9519-966X
Kerstin U LudwigInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.ORCID 0000-0002-8541-2519
Julia WelzenbachInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Nina IshorstInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Michelle ThonissenDepartment of Dentistry, Radboud Institute for Health Sciences, Section of Orthodontics and Craniofacial Biology, Radboud university medical center, 6500 HB Nijmegen, The Netherlands.
Tessel E GaleslootDepartment for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, 6500 HB Nijmegen, The Netherlands.
Edwin OngkosuwitoDepartment of Dentistry, Radboud Institute for Health Sciences, Section of Orthodontics and Craniofacial Biology, Radboud university medical center, 6500 HB Nijmegen, The Netherlands.
Stefaan J BergéDepartment of Oral and Maxillofacial Surgery, Radboud university medical center, 6500 HB Nijmegen, The Netherlands.
Khalid AldhoraeOrthodontic Department, College of Dentistry, Thamar University, Thamar, Yemen.ORCID 0000-0002-5920-8004
Augusto Rojas-MartinezTecnologico de Monterrey, School of Medicine, and Universidad Autonoma de Nuevo Leon, Centro de Investigación y Desarrollo en Ciencias de la Salud, Monterrey 64460, Mexico.ORCID 0000-0003-3765-6778
Lambertus Alm KiemeneyDepartment for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, 6500 HB Nijmegen, The Netherlands.
Joris Robert VermeeschDepartment of Human Genetics, KU Leuven, 3000 Leuven, Belgium.
Han BrunnerDepartment of Human Genetics, and Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, 6500 HB Nijmgen, The Netherlands.
Nel RoeleveldDepartment for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, 6500 HB Nijmegen, The Netherlands.
Koen DevriendtCenter for Human Genetics, University Hospitals Leuven, KU Leuven, 3000 Leuven, Belgium.
Titiaan DormaarDepartment of Imaging and Pathology, KU Leuven, 3000 Leuven, Belgium.
Greet HensDepartment of Neurosciences, Experimental Otorhinolaryngology, KU Leuven, 3000 Leuven, Belgium.
Michael KnappInstitute of Medical Biometry, Informatics and Epidemiology, University of Bonn, 53127 Bonn, Germany.
Carine CarelsDepartment of Human Genetics, KU Leuven, 3000 Leuven, Belgium.ORCID 0000-0002-8974-9223
Elisabeth MangoldInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Radboud University Nijmegen · NLUniversity of Bonn · DEKU Leuven · BEThamar University · YEUniversidad Autónoma de Nuevo León · MX

Funding

Wellcome Trust
6 · The paper itself

Abstract

Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background in which both exogenous and genetic risk factors act in concert. The present report describes a genome-wide association study (GWAS) involving a total of 285 nsCL/P patients and 1212 controls from the Netherlands and Belgium. Twenty of the 40 previously reported nsC/LP susceptibility loci were replicated, which underlined the validity of this sample. SNV-based analysis of the data identified an as yet unreported suggestive locus at chromosome 16p12.1 (

Indexed as

Adaptor Proteins, Vesicular TransportAnimalsBelgiumChromosomes, Human, Pair 10Chromosomes, Human, Pair 16Cleft LipCleft PalateFemaleGenome-Wide Association StudyHumansMaleMiceMice, KnockoutNetherlandsRisk FactorsZebrafishAdaptor Proteins, Vesicular TransportSH3PXD2A protein, humancleft lip with or without cleft palatecongenital malformationgenome-wide association studyorofacial cleft

Identifiers

PMID31817908
PMCPMC6947597
OpenAlexW2993459087

What OpenQuestion holds

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LicenceCC BY
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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.