The DOI matches its Crossref record; 57 of the 57 references it cites were found in a registry or an index.
Genetic analysis of non‐syndromic craniosynostosis
Open accessAbstract
Structured Abstract: Authors – Simeon A. Boyadjiev Craniosynostosis is a common malformation occurring in 3–5 per 10 000 live births. Most often craniosynostosis occurs as an isolated (i.e. non‐syndromic) anomaly. Non‐syndromic craniosynostosis (NSC) is a clinically and genetically heterogeneous condition that has the characteristics of a multifactorial trait. It is believed that each sutural synostosis (e.g. sagittal, coronal) represents a different disease. Significant progress has been made in understanding the clinical and molecular aspects of monogenic syndromic craniosynostosis. However, the phenotypic characterization of NSC is incomplete and its causes remain unknown. This review summarizes the available knowledge on NSC and presents a systematic approach aimed at the identification of genetic and non‐genetic factors contributing to the risk of this common craniofacial defect.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“Although the numbers of patients tested in some groups were relatively small, the low success rate of molecular diagnosis in sagittal synostosis has been independently confirmed.39”
From Craniosynostosis (2011) · cites this paper as [39]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
Jabs, E. W., Müller, U., Li, X., Ma, L., Luo, W., Haworth, I. S., Klisak, I. J., Sparkes, R. S., Warman, M. L., Mulliken, J. B., et al. (1993) · Cell · doi:10.1016/0092-8674(93)90379-5 · Cited by 673
Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome
Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N. S. F., Luna, R. I. O. D., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., & Jabs, E. W. (1997) · Nature Genetics · doi:10.1038/ng0197-36 · Cited by 645
Mutations of the TWIST gene in the Saethre-Chotzene syndrome
Ghouzzi, V. E., Merrer, M. F. L., Perrin‐Schmitt, F., Lajeunie, E., Bénit, P., Rénier, D., Bourgeois, P., Bolcato‐Bellemin, A., Münnich, A., & Bonaventure, J. (1997) · Nature Genetics · doi:10.1038/ng0197-42 · Cited by 644
Craniosynostosis: Diagnosis, Evaluation, and Management
Krieger, M. D. (2001) · Neurosurgery · doi:10.1097/0006123-200104000-00068 · Cited by 642
Craniosynostosis: genes and mechanisms
Wilkie, A. O. M. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.10.1647 · Cited by 528
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
Rutland, P., Pulleyn, L. J., Reardon, W., Baraitser, M., Hayward, R. D., Jones, B. M., Malcolm, S., Winter, R. M., Oldridge, M., Slaney, S. F., et al. (1995) · Nature Genetics · doi:10.1038/ng0295-173 · Cited by 445
Aldridge, K. J., Boyadjiev, S. A., Capone, G. T., DeLeon, V. B., & Richtsmeier, J. T. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30959 · Cited by 393
Self-citationMuenke, M., Gripp, K. W., McDonald‐McGinn, D. M., Gaudenz, K., Whitáker, L. A., Bartlett, S. P., Markowitz, R. I., Robin, N. H., Nwokoro, N., Mulvihill, J. J., et al. (1997) · PubMed · Cited by 382
Genetic study of nonsyndromic coronal craniosynostosis
Lajeunie, E., Merrer, M. L., Bonaïti‐Pellie, C., Marchac, D., & Renier, D. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320550422 · Cited by 374
Research works printed but not linked: 4
- Graham JJ, 1998, Craniofacial deformation, Balliere's Clin Paediatr, 6, 293
- Koskinen‐Moffett LK, 1982, Prog Clin Biol Res, 365
- Boyadjiev S, 2002, Analysis of candidate genes for non‐syndromic craniosynostosis, Am J Hum Genet, 71, A1795
- Weber I, 2001, Molecular analysis of 74 patients with craniosynostosis, Eur J Hum Genet, 9, 179 P0409
Cited by
Sorted by citations
Johnson, D., & Wilkie, A. O. M. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.235 · Cited by 499
Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis
Wilkie, A. O. M., Byren, J. C., Hurst, J. A., Jayamohan, J., Johnson, D., Knight, S. J. L., Lester, T., Richards, P. G., Twigg, S. R. F., & Wall, S. A. (2010) · Pediatrics · doi:10.1542/peds.2009-3491 · Cited by 297
Mathijssen, I. M. J. (2015) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000002016 · Cited by 232
Timberlake, A. T., Choi, J., Zaidi, S., Lu, Q., Nelson-Williams, C. J., Brooks, E. D., Bilgüvar, K., Tikhonova, I., Mane, S., Yang, J. F., et al. (2016) · eLife · doi:10.7554/elife.20125 · Cited by 196
Genetic advances in craniosynostosis
Lattanzi, W., Barba, M., Di Pietro, L., & Boyadjiev, S. A. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38159 · Cited by 129
Self-citation
Metadata
- Authors
- Boyadjiev, S., & for the International Craniosynostosis Consortium
- Affiliations
- University of California, Davis (US)
- Corresponding author
- Boyadjiev, SA
- Venue
- Orthodontics & Craniofacial Research
- Publisher
- Wiley
- Published
- 2007-07-21
- Volume
- 10
- Issue
- 3
- Pages
- 129-137
- ISSN
- 1601-6335 (ISSN-L)
- 1601-6343
- OpenAlex
- W2164204351
- Cited by
- 135
- References
- 56
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 8 · 2023: 10 · 2022: 12 · 2021: 6 · 2020: 7 · 2019: 9 · 2018: 6 · 2017: 15 · 2016: 9 · 2015: 5 · 2014: 6 · 2013: 9 · 2012: 9
- FWCI
- 0.28
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Orthodontics and Craniofacial Research (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- University of Missouri
- Washington University in St. Louis
- University of Washington
- Johns Hopkins University
- University of Oklahoma
- Deutsches Krebsforschungszentrum
- Children's Miracle Network Hospitals
- University of Oxford
- Universität zu Köln
- National Institutes of Health (RR-00052)
- University of California, Davis
- University of California, Irvine
- National Institute on Deafness and Other Communication Disorders (M01-RR00052)
- National Institute of Dental and Craniofacial Research (K23 DE 00462, R03DE016342, K23DE000462, R01DE016886)
- National Center for Research Resources (M01 RR-00052, RR 000 52, M01RR000052)
- Topics
- Health Sciences › Medicine › Surgery › Craniofacial Disorders and Treatments
- Health Sciences › Dentistry › General Dentistry › dental development and anomalies
- Health Sciences › Dentistry › Oral Surgery › Cleft Lip and Palate Research
- Keywords
- nonsyndromic craniosynostosis, cranial sutures, sagittal synostosis, coronal synostosis, genetic risk factors, craniofacial defects
- MeSH terms
- Cranial Sutures, Craniosynostoses, Humans, Molecular Biology, Phenotype, Risk Factors, Syndrome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
