SynthesisHuman genetics2017
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.
Synthesis in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers, 4 of them syntheses that pooled 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.
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.
Who cites it
107 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.Human molecular genetics · 2025Pooled it
- Genome-wide meta-analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population.Molecular genetics & genomic medicine · 2023Pooled it
- Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.Scientific reports · 2022Pooled it
- Pooled it
- Trial
- Deletions and loss-of-function variants in TP63 associated with orofacial clefting.European journal of human genetics : EJHG · 2019Trial
- Trio-based GWAS reveals loci associated with different forms of isolated cleft lip.HGG advances · 2026Article
- Atlas of cell types and regulatory elements underlying human facial diversity.Nature genetics · 2026Article
- Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate.European journal of human genetics : EJHG · 2026Article
- A study of sex-specific genetic effects underlying risk of orofacial clefts also highlights the potential impact of sequencing errors due to short read mis-mapping.medRxiv : the preprint server for health sciences · 2026Article
- Comprehensive analysis ofmedRxiv : the preprint server for health sciences · 2026Article
- Rare variants in FAT3 as possible contributors to non-syndromic orofacial cleft risk.Human genomics · 2026Article
- Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lip.medRxiv : the preprint server for health sciences · 2026Article
- Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci.medRxiv : the preprint server for health sciences · 2026Article
- Advancements in Pathogenic Genes and Biomarkers for Non-syndromic Cleft Lip With or Without Cleft Palate Via Multiomics.International dental journal · 2026Review
- Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.medRxiv : the preprint server for health sciences · 2026Article
- The craniofacial shape of modern humans embodies genomic signatures of evolution, diversity, and clinical conditions.bioRxiv : the preprint server for biology · 2026Article
- Whole Genome Sequencing of Discordant Monozygotic Twins Reveals Regulatory Variants Associated With Nonsyndromic Orofacial Clefts.Human mutation · 2026Article
- Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.Human molecular genetics · 2025Article
- Review
47 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors.
Funding
Abstract
Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects. We performed genome-wide meta-analyses of CL/P, CP, and all OFCs across two large, multiethnic studies. We then performed population-specific meta-analyses in sub-samples of Asian and European ancestry. In addition to observing associations with known variants, we identified a novel genome-wide significant association between SNPs located in an intronic TP63 enhancer and CL/P (p = 1.16 × 10
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.