Evidence map›Paper›PMID 21545302›Full record

ReviewThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2012

Genetics of nonsyndromic orofacial clefts.

Fedik Rahimov, Astanand Jugessur, Jeffrey C Murray

Abstract readReview
In one paragraph

Review in The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 122 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
122citing papers in PubMed, 4 pooled it
6.8field-weighted citation impact, top 3% 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

122 citing papers in PubMed, 4 syntheses or guidelines pooled it, 291 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Trial
  6. What We Learnt in Unilateral Cleft Lip Repair Between Millard's and Tennison-Randall's Techniques: Comparison of the Outcomes in Adult Patients.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026
    Article
  7. Identification of novel genes regulating the development of the palate.Developmental dynamics : an official publication of the American Association of Anatomists · 2026
    Article
  8. Maternal Smoking and Preterm Birth Among Infants With Orofacial Clefts.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026
    Article
  9. A Combination of Variants in SEPTIN9 and MSX1 Genes Leads to the Formation of Orofacial Clefts.Genes to cells : devoted to molecular & cellular mechanisms · 2026
    Article
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  12. Review
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  16. Review
  17. Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.medRxiv : the preprint server for health sciences · 2025
    Article
  18. Article
  19. Article
  20. Article

62 more citing papers are in PubMed but not listed here.

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

3 authors at 1 institution in 1 country.

Fedik RahimovInterdisciplinary Ph.D. Program in Genetics, Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.
Astanand Jugessur
Jeffrey C Murray
University of Iowa · US

Funding

PHENOTYPE AND GENETICS IN OROFACIAL CLEFT FAMILIESP50DE016215 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2008
$10.1M
Molecular Genetic Epidemiology of Cleft Lip and PalateR37DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2013
$6.8M
MINORITY PREDOCTORAL FELLOWSHIP PROGRAMF31ES005606 · NIEHS · TULANE UNIVERSITY OF LOUISIANA · PI CORREA, CATHERINE N · 1992 to 1994
–
NIDCR NIH HHS P50 DE016215NIDCR NIH HHS P50 DE16215NIDCR NIH HHS R37 DE008559NIDCR NIH HHS R37 DE08559NIEHS NIH HHS P30 ES05606
6 · The paper itself

Abstract

With an average worldwide prevalence of approximately 1.2/1000 live births, orofacial clefts are the most common craniofacial birth defects in humans. Like other complex disorders, these birth defects are thought to result from the complex interplay of multiple genes and environmental factors. Significant progress in the identification of underlying genes and pathways has benefited from large populations available for study, increased international collaboration, rapid advances in genotyping technology, and major improvements in analytic approaches. Here we review recent advances in genetic epidemiological approaches to complex traits and their applications to studies of nonsyndromic orofacial clefts. Our main aim is to bring together a discussion of new and previously identified candidate genes to create a more cohesive picture of interacting pathways that shape the human craniofacial region. In future directions, we highlight the need to search for copy number variants that affect gene dosage and rare variants that are possibly associated with a higher disease penetrance. In addition, sequencing of protein-coding regions in candidate genes and screening for genetic variation in noncoding regulatory elements will help advance this important area of research.

Indexed as

Cleft LipCleft PalateGenetic LinkageGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansHybridization, GeneticMaxillofacial DevelopmentSequence Analysis

Identifiers

PMID21545302
PMCPMC3437188
OpenAlexW2375782756

What OpenQuestion holds

Textmetadata
LicenceTDM
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.