ArticleHGG advances2021
The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip.
Article in HGG advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.Human molecular genetics · 2025Pooled it
- Trio-based GWAS reveals loci associated with different forms of isolated cleft lip.HGG advances · 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
- Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.bioRxiv : the preprint server for biology · 2025Article
- Genome scan reveals several loci associated with torus palatinus.Orthodontics & craniofacial research · 2025Article
- Article
- Comparative CBCT Analysis of Maxillofacial Skeletal Structures in Patients with Unilateral Cleft Lip and Palate and Non-Cleft Individuals.Diagnostics (Basel, Switzerland) · 2024Article
- Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.Communications biology · 2024Article
- Functional analysis ofbioRxiv : the preprint server for biology · 2024Article
- Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes.Journal of human genetics · 2024Article
- Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.Human genetics · 2023Article
- Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.Communications biology · 2023Article
- Rare genetic variants inmedRxiv : the preprint server for health sciences · 2023Article
- Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology.Annual review of genomics and human genetics · 2022Review
- Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes.Genetic epidemiology · 2022Article
- What's Shape Got to Do With It? Examining the Relationship Between Facial Shape and Orofacial Clefting.Frontiers in genetics · 2022Review
- FAT4 identified as a potential modifier of orofacial cleft laterality.Genetic epidemiology · 2021Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 2 countries.
Funding
Abstract
Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically heterogenous in the structure affected by the cleft - cleft lip (CL) and cleft lip and palate (CLP) - as well as other features, such as the severity of the cleft. Here, we focus on bilateral and unilateral clefts as one dimension of OFC severity, because the genetic architecture of these subtypes is not well understood. We tested for subtype-specific genetic associations in 44 bilateral CL (BCL) cases, 434 unilateral CL (UCL) cases, 530 bilateral CLP cases (BCLP), 1123 unilateral CLP (UCLP) cases, and unrelated controls (N = 1626), using a mixed-model approach. While no novel loci were found, the genetic architecture of UCL was distinct compared to BCL, with 44.03% of suggestive loci having different effects between the two subtypes. To further understand the subtype-specific genetic risk factors, we performed a genome-wide scan for modifiers and found a significant modifier locus on 20p11 (p=7.53×10
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.