ArticleNature communications2023
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 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.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk.PLoS genetics · 2025Pooled it
- The orofacial cleft risk gene IRF6 is a target gene of SOX9 in cranial neural crest cells.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.Human molecular genetics · 2026Article
- Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.Molecular genetics and genomics : MGG · 2026Article
- A newly discovered PAX7 variant associated with craniofacial duplication: a case report.BMC pregnancy and childbirth · 2026Article
- Cis-regulatory evolution shapes facial diversity in birds and mammals.Science advances · 2026Article
- Genetic and Epigenetic Contributors to Cleft Laterality: Evidence from Monozygotic Mirror Twins and Replication Cohorts.medRxiv : the preprint server for health sciences · 2026Article
- Epigenetic Signatures in Monozygotic and Dizygotic Twins Discordant for Orofacial Clefts.medRxiv : the preprint server for health sciences · 2026Article
- Gene expression dynamics of human and mouse craniofacial development at the single-cell level.Nature communications · 2026Article
- TGF-β/BMP signaling in skeletal biology: molecular mechanisms, regulatory networks, and therapeutic implications in development, regeneration, and disease.Bone research · 2026Review
- 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
- Overexpression of miR-320-3p, miR-381-3p, and miR-27a-3p Suppresses Genes Related to Midline Facial Cleft in Mouse Cranial Neural Crest Cells.International journal of molecular sciences · 2025Article
- Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.American journal of human genetics · 2025Article
- Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.medRxiv : the preprint server for health sciences · 2025Article
- Identification of functional non-coding variants associated with orofacial cleft.Nature communications · 2025Article
- Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.Birth defects research · 2025Article
- Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.American journal of human genetics · 2025Article
- A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies.American journal of human genetics · 2025Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
Craniofacial disorders arise in early pregnancy and are one of the most common congenital defects. To fully understand how craniofacial disorders arise, it is essential to characterize gene expression during the patterning of the craniofacial region. To address this, we performed bulk and single-cell RNA-seq on human craniofacial tissue from 4-8 weeks post conception. Comparisons to dozens of other human tissues revealed 239 genes most strongly expressed during craniofacial development. Craniofacial-biased developmental enhancers were enriched +/- 400 kb surrounding these craniofacial-biased genes. Gene co-expression analysis revealed that regulatory hubs are enriched for known disease causing genes and are resistant to mutation in the normal healthy population. Combining transcriptomic and epigenomic data we identified 539 genes likely to contribute to craniofacial disorders. While most have not been previously implicated in craniofacial disorders, we demonstrate this set of genes has increased levels of de novo mutations in orofacial clefting patients warranting further study.
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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 Socratic graph.