ArticleAmerican journal of medical genetics. Part A2018
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers, 3 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
17 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- 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
- Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.Communications biology · 2023Pooled it
- Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.Genes · 2023Pooled it
- The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.Scientific reports · 2023Article
- 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
- Redefining the catalytic HECT domain boundaries for the HECT E3 ubiquitin ligase family.Bioscience reports · 2022Article
- Article
- Unexpected role ofJournal of medical genetics · 2022Article
- LARS2 Regulates Apoptosis via ROS-Mediated Mitochondrial Dysfunction and Endoplasmic Reticulum Stress in Ovarian Granulosa Cells.Oxidative medicine and cellular longevity · 2022Article
- Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.Case reports in genetics · 2022Article
- Deletion ofCold Spring Harbor molecular case studies · 2021Article
- Interleukin-11 (IL-11) receptor cleavage by the rhomboid protease RHBDL2 induces IL-11 trans-signaling.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.BMC musculoskeletal disorders · 2020Article
- [The role of interleukin-11 in osteosarcoma].Der Pathologe · 2020Review
- Cranial growth in isolated sagittal craniosynostosis compared with normal growth in the first 6 months of age.Journal of anatomy · 2020Article
- Calvarial osteoblast gene expression in patients with craniosynostosis leads to novel polygenic mouse model.PloS one · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
13 authors.
Funding
Abstract
We report RNA-Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis-related genes. Genetic burden analysis identified a significant increase in damaging variants in ATR, EFNA4, ERF, MEGF8, SCARF2, and TGFBR2. Of 391 participants, 15% were found to have damaging and potentially causal variants in 29 genes. We observed transmission in 96% of the affected individuals, and thus penetrance, epigenetics, and oligogenic factors need to be considered when recommending genetic testing in patients with nonsyndromic craniosynostosis.
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.