ArticleNature communications2016
Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 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
36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 64 citations in OpenAlex.
- Vascular Mechanisms in the Etiology of Hemifacial Microsomia: A Systematic Review of Epidemiological, Clinical, and Genetic Evidence.Birth defects research · 2026Pooled it
- Genotype-phenotype associations in microtia: a systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Pathogenic variants inGenes & diseases · 2026Article
- Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.Human molecular genetics · 2026Article
- Functional Analysis of miR-148a: A Differentially Expressed microRNA in Hemifacial Microsomia.Current molecular medicine · 2026Article
- Genetic architecture of craniofacial morphogenesis: roles ofFrontiers in cell and developmental biology · 2026Review
- Splicing Defects and Cell Death CauseJournal of dental research · 2025Article
- Genetic correlation and causation of craniofacial microsomia with 33 diseases in Asian populations: insights from large-scale genome-wide cross-trait analysis.Scientific reports · 2025Article
- Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis.Nature communications · 2025Article
- CommonGenome research · 2025Article
- Ocular Manifestations and Pathological Features in Goldenhar Syndrome: A 10-Year Retrospective Study.Ophthalmology and therapy · 2025Article
- Pathogenic variants in SHROOM3 associated with hemifacial microsomia.Journal of human genetics · 2025Article
- Article
- Insights into Craniofacial Development and Anomalies: Exploring Fgf Signaling in Zebrafish Models.Current osteoporosis reports · 2024Review
- Transcriptome analyses of murine right and left maxilla-mandibular complex.Orthodontics & craniofacial research · 2023Article
- Germline modifiers of the tumor immune microenvironment implicate drivers of cancer risk and immunotherapy response.Nature communications · 2023Article
- FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nature communications · 2023Article
- COMMD10 Is Essential for Neural Plate Development during Embryogenesis.Journal of developmental biology · 2023Article
- Predicting Modifiers of Genotype-Phenotype Correlations in Craniofacial Development.International journal of molecular sciences · 2023Article
- GATA3 mediates nonclassical β-catenin signaling in skeletal cell fate determination and ectopic chondrogenesis.Science advances · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Craniofacial microsomia (CFM) is a rare congenital anomaly that involves immature derivatives from the first and second pharyngeal arches. The genetic pathogenesis of CFM is still unclear. Here we interrogate 0.9 million genetic variants in 939 CFM cases and 2,012 controls from China. After genotyping of an additional 443 cases and 1,669 controls, we identify 8 significantly associated loci with the most significant SNP rs13089920 (logistic regression P=2.15 × 10(-120)) and 5 suggestive loci. The above 13 associated loci, harboured by candidates of ROBO1, GATA3, GBX2, FGF3, NRP2, EDNRB, SHROOM3, SEMA7A, PLCD3, KLF12 and EPAS1, are found to be enriched for genes involved in neural crest cell (NCC) development and vasculogenesis. We then perform whole-genome sequencing on 21 samples from the case cohort, and identify several novel loss-of-function mutations within the associated loci. Our results provide new insights into genetic background of craniofacial microsomia.
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.