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
Bellus, G. A., Gaudenz, K., Zackai, E. H., Clarke, L. A., Szabo, J., Francomano, C. A., & Muenke, M. (1996) · Nature Genetics · doi:10.1038/ng1096-174 · Cited by 311
Intracranial Pressure in Single-Suture Craniosynostosis
Thompson, D. N. P., Malcolm, G. P., Jones, B. M., Harkness, W. F. J., & Hayward, R. D. (2008) · Pediatric Neurosurgery · doi:10.1159/000120907 · Cited by 234
Huang, M. H. S., Gruss, J. S., Clarren, S. K., Mouradian, W. E., Cunningham, M. L., Roberts, T. S., Loeser, J. D., & Cornell, C. J. (1996) · Plastic & Reconstructive Surgery · doi:10.1097/00006534-199610000-00001 · Cited by 225
Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations
Paznekas, W. A., Cunningham, M. L., Howard, T. D., Korf, B. R., Lipson, M. H., Grix, A. W., Feingold, M., Goldberg, R. B., Borochowitz, Z. U., Aleck, K. A., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301855 · Cited by 222
Maldergem, L. V., Siitonen, H. A., Jalkh, N., Chouery, É., Roy, M. D., Delague, V., Muenke, M., Jabs, E. W., Cai, J., Wang, L., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.031781 · Cited by 217
Long-term neuropsychological effects of sagittal craniosynostosis on child development
Magge, S. N., Westerveld, M., Pruzinsky, T., & Persing, J. A. (2002) · Journal of Craniofacial Surgery · doi:10.1097/00001665-200201000-00023 · Cited by 214
Merrill, A. E., Bochukova, E. G., Brugger, S. M., Ishii, M., Pilz, D. T., Wall, S. A., Lyons, K. M., Wilkie, A. O. M., & Maxson, R. E. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl052 · Cited by 206
Hunter, A. G. W., & Rudd, N. L. (1976) · Teratology · doi:10.1002/tera.1420140209 · Cited by 199
Clinical phenotype of desmosterolosis
FitzPatrick, D. R., Keeling, J. W., Evans, M. J., Kan, A. E., Bell, J. E., Porteous, M. E., Mills, K. A., Winter, R. M., & Clayton, P. T. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980113)75:2 · Cited by 172
Speech, language, and cognitive development in children with isolated sagittal synostosis
Shipster, C., Hearst, D., Somerville, A., Stackhouse, J., Hayward, R. D., & Wade, A. M. (2002) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162203000070 · Cited by 169
Meyers, G. A., Day, D., Goldberg, R. B., Daentl, D. L., Przylepa, K. A., Abrams, L., Graham, J., Feingold, M., Moeschler, J. B., Rawnsley, E. F., et al. (1996) · PubMed Central · Cited by 168
Subdural intracranial pressure monitoring in craniosynostosis: its role in surgical management
Thompson, D., Harkness, W., Jones, B., Gonsalez, S., Andar, U., & Hayward, R. (1995) · Child's Nervous System · doi:10.1007/bf00301758 · Cited by 152
Speech, language, and cognitive development in children with isolated sagittal synostosis
Shipster, C., Stackhouse, J., & Wade, A. (2003) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2003.tb00857.x · Cited by 151
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis
Moloney, D. M., Wall, S., Ashworth, G., Oldridge, M., Glass, I. A., Francomano, C., Muenke, M., & Wilkie, A. O. M. (1997) · The Lancet · doi:10.1016/s0140-6736(96)09082-4 · Cited by 147
Chromosome Breakage Hotspots and Delineation of the Critical Region for the 9p-Deletion Syndrome
Christ, L. A., Crowe, C. A., Micale, M. A., Conroy, J. M., & Schwartz, S. (1999) · The American Journal of Human Genetics · doi:10.1086/302606 · Cited by 133
Eswarakumar, V. P., Özcan, F., Lew, E. D., Bae, J. H., Tomé, F., Booth, C. J., Adams, D. J., Lax, I., & Schlessinger, J. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0609157103 · Cited by 116
Craniosynostosis and fetal exposure to sodium valproate
Lajeunie, E., Barcik, U., Thorne, J. A., Ghouzzi, V. E., Bourgeois, M., & Renier, D. (2001) · Journal of Neurosurgery · doi:10.3171/jns.2001.95.5.0778 · Cited by 109
Hunter, A. G. W., & Rudd, N. L. (1977) · Teratology · doi:10.1002/tera.1420150312 · Cited by 107
Central nervous system phenotypes in craniosynostosis
Aldridge, K. J., Marsh, J. L., Govier, D. P., & Richtsmeier, J. T. (2002) · Journal of Anatomy · doi:10.1046/j.1469-7580.2002.00074.x · Cited by 105
Classification of previously unclassified cases of craniosynostosis
Chumas, P., Cinalli, G., Arnaud, É., Marchac, D., & Rénier, D. (1997) · Journal of neurosurgery · doi:10.3171/jns.1997.86.2.0177 · Cited by 92
Ophthalmologic Findings in Patients With Nonsyndromic Plagiocephaly
Gupta, P. C., Foster, J., Crowe, S., Papay, F., Luciano, M., & Traboulsi, E. (2002) · The Journal of craniofacial surgery (Print) · doi:10.1097/00001665-200307000-00026 · Cited by 90
Genetic analysis of patients with the Saethre‐Chotzen phenotype
Chun, K., Teebi, A. S., Jung, J. H., Kennedy, S. J., Laframboise, R., Meschino, W. S., Nakabayashi, K., Scherer, S. W., Ray, P. N., & Teshima, I. E. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10400 · Cited by 85
Brain morphology in nonsyndromic unicoronal craniosynostosis
Aldridge, K. J., Kane, A. A., Marsh, J. L., Panchal, J., Boyadjiev, S. A., Yan, P., Govier, D. P., Ahmad, W., & Richtsmeier, J. T. (2005) · The Anatomical Record Part A Discoveries in Molecular Cellular and Evolutionary Biology · doi:10.1002/ar.a.20201 · Cited by 78
Self-citationA novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?
Johnson, D. W., Wall, S., Mann, S., & Wilkie, A. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200499 · Cited by 76
Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates
Jabs, E. W. (1998) · Clinical Genetics · doi:10.1111/j.1399-0004.1998.tb02648.x · Cited by 72
Genetic and Environmental Risk Factors for Sagittal Craniosynostosis
Zeiger, J. S., Beaty, T. H., Hetmanski, J. B., Wang, H., Scott, A. F., Kasch, L., Raymond, G., Jabs, E. W., & VanderKolk, C. (2002) · Journal of Craniofacial Surgery · doi:10.1097/00001665-200209000-00002 · Cited by 66
Kress, W., Petersen, B., Collmann, H., & Grimm, T. (2000) · Cytogenetic and Genome Research · doi:10.1159/000056834 · Cited by 57
Jehee, F., Johnson, D., Alonso, L., Cavalcanti, D., De Sá Moreira, E., Alberto, F., Kok, F., Kim, C., Wall, S., Jabs, E., et al. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00438.x · Cited by 55
Self-citationSix cases of 7p deletion: Clinical, cytogenetic, and molecular studies
Chotai, K. A., Brueton, L. A., van Herwerden, L., Garrett, C., Hinkel, G. K., Schinzel, A., Mueller, R. F., Speleman, F., & Winter, R. M. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320510320 · Cited by 54
Unilateral Fusion of the Frontosphenoidal Suture: A Rare Cause of Synostotic Frontal Plagiocephaly
Rogers, G. F., Proctor, M. R., & Mulliken, J. B. (2002) · Plastic & Reconstructive Surgery · doi:10.1097/01.prs.0000021308.37931.18 · Cited by 52
L’oxycéphalie, une craniosténose sévère. À propos d’une série de 129 cas
Rénier, D., Cinalli, G., Lajeunie, E., Arnaud, É., & Marchac, D. (1997) · Archives de Pédiatrie · doi:10.1016/s0929-693x(97)83408-2 · Cited by 49
Tubbs, R. S., Elton, S., Blount, J. P., & Oakes, W. J. (2001) · Pediatric Neurosurgery · doi:10.1159/000050407 · Cited by 48
Two craniosynostotic patients with 11q deletions, and review of 48 cases
Lewanda, A. F., Morsey, S., Reid, C. S., & Jabs, E. W. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320590215 · Cited by 47
Mild trigonocephaly and intracranial pressure: report of 56 patients
Shimoji, T., & Tomiyama, N. (2003) · Child s Nervous System · doi:10.1007/s00381-004-0970-y · Cited by 47
Lambdoid stenosis (posterior plagiocephaly) and craniofacial asymmetry: long-term outcomes
Goodrich, J. T., & Argamaso, R. V. (1996) · Child s Nervous System · doi:10.1007/bf00366157 · Cited by 41
Unilateral Fusion of the Frontosphenoidal Suture: A Rare Cause of Synostotic Frontal Plagiocephaly
Rogers, G. F., Proctor, M. R., & Mulliken, J. B. (2002) · Plastic & Reconstructive Surgery · doi:10.1097/00006534-200209150-00001 · Cited by 33
Cranial synostosis and intra-uterine compression: a developmental study of human sutures.
Koskinen-Moffett, L., Bc, M., & Jm, G. (1982) · PubMed · Cited by 28
Currarino, G. (1985) · PubMed · Cited by 24
A de novo interstitial deletion of chromosome 6 (q22.2q23.1)
Park, J. P., Graham, J. M., Berg, S. Z., & Wurster‐Hill, D. H. (1988) · Clinical Genetics · doi:10.1111/j.1399-0004.1988.tb03411.x · Cited by 24
Duplication 7p in a family with t(7;11): Association with anomalies of the anterior cranial base
Odell, J. M., Siebert, J. R., Bradley, C. M., Salk, D., & Reynolds, J. F. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320270323 · Cited by 17
Recurrent lambdoid synostosis within two families
Fryburg, J. S., Hwang, V., & Lin, K. Y. K. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320580313 · Cited by 15
Obstetrical Factors Governing the Etiopathogenesis of Lambdoid Synostosis
Shahinian, H. K., Jaekle, R. K., Suh, R. H., Jarrahy, R., Aguilar, V., & Soojian, M. G. (1998) · American Journal of Perinatology · doi:10.1055/s-2007-993943 · Cited by 13
Unilateral Lambdoidal Synostosis with Mendosal Suture Involvement
Tubbs, R. S., Wellons, J. C., & Oakes, W. J. (2003) · Pediatric Neurosurgery · doi:10.1159/000070882 · Cited by 9
Furusawa, K., Yamaoka, M., & Ichikawa, N. (1994) · The Cleft Palate-Craniofacial Journal · doi:10.1597/1545-1569(1994)031 · Cited by 3
Unsuspected mutation in a family with congenital adrenal hyperplasia
Oriola, J., & Pavía, C. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970808)71:2 · Cited by 1
Further delineation of the acro-renal-ocular syndrome
(1996) · Pure Amsterdam UMC · doi:10.1002/(sici)1096-8628(19960329)62:3 · Cited by 1
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