ArticleeLife2016
Two locus inheritance of non-syndromic midline craniosynostosis via rare
Article in eLife, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 122 papers, 2 of them syntheses 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
122 citing papers in PubMed, 2 syntheses or guidelines pooled it, 195 citations in OpenAlex.
- Genetics versus environment in the pathophysiology of sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.Human genetics · 2020Pooled it
- Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.European journal of human genetics : EJHG · 2019Trial
- Shared genetic basis and structure of syndromic and normal facial variation.American journal of human genetics · 2026Article
- Smad3 deficiency attenuates disease severity in a zebrafish model for Smad6-related aortic disease.Angiogenesis · 2026Article
- Non-syndromic craniosynostosis: contemporary concepts in biology, diagnosis, and distraction-based operative strategy.Archives of craniofacial surgery · 2026Article
- Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis.BMC medical genomics · 2026Article
- Trends and insights in non-syndromic craniosynostosis research globally: a bibliometric analysis of the Web of Science database (2005-2024).Translational pediatrics · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- Human cranial stem cells: developmental, pathologic, and therapeutic implications.Frontiers in cell and developmental biology · 2026Review
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.Nature communications · 2025Article
- Inhibition of craniosynostosis and premature suture fusion inScience advances · 2025Article
- Dosage-dependent effects of FGFR2Anatomical record (Hoboken, N.J. : 2007) · 2025Article
- Non-syndromic craniosynostosis.Nature reviews. Disease primers · 2025Review
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- Endoscopic Strip Craniectomy for the Treatment of Single Suture Craniosynostosis.Advances and technical standards in neurosurgery · 2025Review
- Rare disease genomics and precision medicine.Genomics & informatics · 2024Review
- Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.Journal of anatomy · 2024Article
62 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
24 authors at 3 institutions in 1 country.
Funding
Abstract
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosis, we performed exome sequencing of 132 parent-offspring trios and 59 additional probands. Thirteen probands (7%) had damaging de novo or rare transmitted mutations in
Indexed as
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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.