ArticleCurrent genetic medicine reports2014
Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.
Article in Current genetic medicine reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03025763 (Craniosynostosis Network), which is not on this map. Cited by 44 papers.
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.
Craniosynostosis Network
Who cites it
44 citing papers in PubMed, 96 citations in OpenAlex.
- Embryodysgenesis of the Lids and Orbit.Eye (London, England) · 2026Review
- Unilateral craniosynostosis associated with ZIC1 gene mutation: a case report.Journal of surgical case reports · 2026Article
- Differential regulation of coronal and lambdoid suture patency by PTHLH and HHIP activity in mice.Development (Cambridge, England) · 2025Article
- Functional analyses of splice site variants in TCF12.Human genomics · 2025Article
- Surgery of craniosynostosis: a historical review.Annals of medicine and surgery (2012) · 2025Review
- Nonsyndromic craniosynostosis associated with bipolar affective disorder and mild cognitive disorder.Industrial psychiatry journal · 2024Article
- Regulatory elements inGenetics in medicine open · 2024Article
- Transcriptomic Signatures of Single-Suture Craniosynostosis Phenotypes.International journal of molecular sciences · 2023Article
- The value of genome-wide analysis in craniosynostosis.Frontiers in genetics · 2023Article
- The identification of a novel frameshift insertion mutation in theClinical case reports · 2022Article
- A dysmorphic mouse model reveals developmental interactions of chondrocranium and dermatocranium.eLife · 2022Article
- Article
- Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.European journal of human genetics : EJHG · 2022Article
- Meckel's Cartilage in Mandibular Development and Dysmorphogenesis.Frontiers in genetics · 2022Article
- Single-cell analysis identifies a key role for Hhip in murine coronal suture development.Nature communications · 2021Article
- Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.European journal of human genetics : EJHG · 2021Article
- Deletion ofCold Spring Harbor molecular case studies · 2021Article
- Hereditary Multiple Exostoses-A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies.Frontiers in genetics · 2021Review
- FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research.Development (Cambridge, England) · 2020Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Craniosynostosis, a condition that includes the premature fusion of one or multiple cranial sutures, is a relatively common birth defect in humans and the second most common craniofacial anomaly after orofacial clefts. There is a significant clinical variation among different sutural synostoses as well as significant variation within any given single-suture synostosis. Craniosynostosis can be isolated (i.e., nonsyndromic) or occurs as part of a genetic syndrome (e.g., Crouzon, Pfeiffer, Apert, Muenke, and Saethre-Chotzen syndromes). Approximately 85 % of all cases of craniosynostosis are nonsyndromic. Several recent genomic discoveries are elucidating the genetic basis for nonsyndromic cases and implicate the newly identified genes in signaling pathways previously found in syndromic craniosynostosis. Published epidemiologic and phenotypic studies clearly demonstrate that nonsyndromic craniosynostosis is a complex and heterogeneous condition supporting a strong genetic component accompanied by environmental factors that contribute to the pathogenetic network of this birth defect. Large population, rather than single-clinic or hospital-based studies is required with phenotypically homogeneous subsets of patients to further understand the complex genetic, maternal, environmental, and stochastic factors contributing to nonsyndromic craniosynostosis. Learning about these variables is a key in formulating the basis of multidisciplinary and lifelong care for patients with these conditions.
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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.