A Genetic-Pathophysiological Framework for Craniosynostosis

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

Mundlos, S., Otto, F., Mundlos, C., Mulliken, J. B., Aylsworth, A. S., Albright, S. G., Lindhout, D., Cole, W. G., Henn, W., Knoll, J. H. M., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80260-3 · Cited by 1,502 · see citing works

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

Wilkie, A., Slaney, S., Oldridge, M., Poole, M., Ashworth, G., Hockley, A., Hayward, R., David, D., Pulleyn, L., Rutland, P., et al. (1995) · Nature Genetics · doi:10.1038/ng0295-165 · Cited by 933 · see citing works

FGF signaling pathways in endochondral and intramembranous bone development and human genetic diseasePreprint

Ornitz, D. M., & Marie, P. J. (2002) · Genes & Development · doi:10.1101/gad.990702 · Cited by 902 · see citing works

Tissue origins and interactions in the mammalian skull vault.

Jiang, X., Iseki, S., Maxson, R. E., Sucov, H. M., & Morriss-Kay, G. M. (2002) · Developmental Biology · doi:10.1006/dbio.2001.0487 · Cited by 782 · see citing works

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

Reardon, W., Winter, R., Rutland, P., Pulleyn, L., Jones, B., & Malcolm, S. (1994) · Nature Genetics · doi:10.1038/ng0994-98 · Cited by 746 · see citing works

A Twist Code Determines the Onset of Osteoblast Differentiation

Bialek, P., Kern, B., Yang, X., Schrock, M., Šošić, D., Hong, N. A., Wu, H., Yu, K., Ornitz, D. M., Olson, E. N., et al. (2004) · Developmental Cell · doi:10.1016/s1534-5807(04)00058-9 · Cited by 674 · see citing works

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

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 · see citing works

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 · see citing works

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 639 · see citing works

Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA.

Evers, R., Kool, M., van Deemter, L., Janssen, H., Calafat, J., Oomen, L. C. J. M., Paulusma, C. C., Elferink, R. P. J. O., Baas, F., Schinkel, A. H., et al. (1998) · Journal of Clinical Investigation · doi:10.1172/jci119886 · Cited by 623 · see citing works

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-269 · Cited by 614 · see citing works

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Tavormina, P. L., Shiang, R., Thompson, L., Zhu, Y.-Z., Wilkin, D. J., Lachman, R., Wilcox, W., Rimoin, D., Cohn, D., & Wasmuth, J. (1995) · Nature Genetics · doi:10.1038/ng0395-321 · Cited by 591 · see citing works

Craniosynostosis: Diagnosis, Evaluation, and Management

Krieger, M. D. (2001) · Neurosurgery · doi:10.1097/0006123-200104000-00068 · Cited by 558 · see citing works

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia

Naski, M., Wang, Q., Xu, J.-S., & Ornitz, D. (1996) · Nature Genetics · doi:10.1038/ng0696-233 · Cited by 525 · see citing works

Craniosynostosis: genes and mechanisms

Wilkie, A. O. M. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.10.1647 · Cited by 523 · see citing works

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Flück, C. E., Tajima, T., Pandey, A. V., Arlt, W., Okuhara, K., Verge, C. F., Jabs, E. W., Mendonça, B. B., Fujieda, K., & Miller, W. L. (2004) · Nature Genetics · doi:10.1038/ng1300 · Cited by 509 · cited 1× · see citing works

Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18.Preprint

Liu, Z.-H., Xu, J.-S., Colvin, J. S., & Ornitz, D. (2002) · Genes & Development · doi:10.1101/gad.965602 · Cited by 501 · see citing works

Craniosynostosis

Johnson, D., & Wilkie, A. O. M. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.235 · Cited by 499 · see citing works

FGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesis.Preprint

Ohbayashi, N., Shibayama, M., Kurotaki, Y., Imanishi, M., Fujimori, T., Itoh, N., & Takada, S. (2002) · Genes & Development · doi:10.1101/gad.965702 · Cited by 487 · see citing works

Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

Morriss‐Kay, G. M., & Wilkie, A. O. M. (2005) · Journal of Anatomy · doi:10.1111/j.1469-7580.2005.00475.x · Cited by 483 · see citing works

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

Jabs, E., Li, X., Scott, A., Meyers, G., Chen, W. T., Eccles, M., Mao, J., Charnas, L., Jackson, C., & Jaye, M. (1994) · Nature Genetics · doi:10.1038/ng1194-275 · Cited by 452 · see citing works

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

Rutland, P., Pulleyn, L., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S., Winter, R., Oldridge, M., Slaney, S., et al. (1995) · Nature Genetics · doi:10.1038/ng0295-173 · Cited by 443 · see citing works

The suture provides a niche for mesenchymal stem cells of craniofacial bones

Zhao, H., Feng, J., Ho, T., Grimes, W., Urata, M. M., & Chai, Y. (2015) · Nature Cell Biology · doi:10.1038/ncb3139 · Cited by 429 · see citing works

Cell lineage in mammalian craniofacial mesenchyme.

Yoshida, T., Vivatbutsiri, P., Morriss-Kay, G., Saga, Y., & Iseki, S. (2008) · Mechanisms of Development · doi:10.1016/j.mod.2008.06.007 · Cited by 384 · see citing works

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

Meyers, G., Orlow, S., Munro, I., Przylepa, K. A., & Jabs, E. (1995) · Nature Genetics · doi:10.1038/ng1295-462 · Cited by 375 · see citing works

Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway

Eggenschwiler, J. T., Espinoza, E., & Anderson, K. V. (2001) · Nature · doi:10.1038/35084089 · Cited by 374 · see citing works

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 · see citing works

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Taylor, J. C., Martin, H. C., Lise, S., Broxholme, J., Cazier, J., Rimmer, A., Kanapin, A. A., Lunter, G. A., Fiddy, S., Allan, C., et al. (2015) · Nature Genetics · doi:10.1038/ng.3304 · Cited by 370 · see citing works

A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003

Boulet, S. L., Rasmussen, S. A., & Honein, M. A. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32208 · Cited by 370 · see citing works

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

Goriely, A., & Wilkie, A. O. M. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.017 · Cited by 365 · see citing works

Mutations of ephrin-B1 ( EFNB1 ), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Twigg, S. R. F., Kan, R., Babbs, C., Bochukova, E. G., Robertson, S. P., Wall, S. A., Morriss‐Kay, G. M., & Wilkie, A. O. M. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0402819101 · Cited by 341 · see citing works

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

White, K., Cabral, J., Davis, S. I., Fishburn, T., Evans, W. E., Ichikawa, S., Fields, J., Yu, X.-J., Shaw, N., McLellan, N., et al. (2005) · American Journal of Human Genetics · doi:10.1086/427956 · Cited by 320 · see citing works

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

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 · see citing works

<i>Fgfr1</i> and <i>Fgfr2</i> have distinct differentiation- and proliferation-related roles in the developing mouse skull vault

Iseki, S., Wilkie, A. O. M., & Morriss-Kay, G. M. (1999) · Development · doi:10.1242/dev.126.24.5611 · Cited by 305 · see citing works

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 · see citing works

A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

Chen, H.-B., Ma, J.-H., Li, W., Eliseenkova, A. V., Xu, C.-F., Neubert, T., Miller, W., & Mohammadi, M. (2007) · Molecules and Cells · doi:10.1016/j.molcel.2007.06.028 · Cited by 290 · see citing works

Ephrin-B1 forward and reverse signaling are required during mouse developmentPreprint

Davy, A., Aubin, J., & Soriano, P. M. (2004) · Genes & Development · doi:10.1101/gad.1171704 · Cited by 288 · see citing works

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Gilissen, C., Arts, H. H., Hoischen, A., Spruijt, L., Mans, D. A., Arts, P., van Lier, B., Steehouwer, M., van Reeuwijk, J., Kant, S. G., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.08.004 · Cited by 279 · see citing works

NADPH P450 oxidoreductase: Structure, function, and pathology of diseases

Pandey, A. V., & Flück, C. E. (2013) · Pharmacology &amp; Therapeutics · doi:10.1016/j.pharmthera.2013.01.010 · Cited by 279 · see citing works

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Jenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., Donnai, D., Josifiova, D., Mathijssen, I. M. J., Morton, J. E. V., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/518047 · Cited by 276 · see citing works

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Hoischen, A., van Bon, B. W. M., Rodríguez‐Santiago, B., Gilissen, C., Vissers, L. E. L. M., de Vries, P., Janssen, I. M., van Lier, B., Hastings, R., Smithson, S., et al. (2011) · Nature Genetics · doi:10.1038/ng.868 · Cited by 271 · see citing works

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Rooryck, C., Dı́az-Font, A., Osborn, D. P. S., Chabchoub, E., Hernández-Hernández, V., Shamseldin, H. E., Kenny, J., Waters, A. M., Jenkins, D., Kaissi, A. A., et al. (2011) · Nature Genetics · doi:10.1038/ng.757 · Cited by 265 · see citing works

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., Gillis, E., Mortier, G. R., Homfray, T., Sauls, K., et al. (2012) · Nature Genetics · doi:10.1038/ng.2421 · Cited by 265 · see citing works

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

Oldridge, M., Zackai, E., McDonald-McGinn, D., Iseki, S., Morriss-Kay, G. M., Twigg, S. R. F., Johnson, D., Wall, S. A., Jiang, W., Theda, C., et al. (1999) · American Journal of Human Genetics · doi:10.1086/302245 · Cited by 248 · see citing works

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

Schell, U., Hehr, A., Feldman, G., Robin, N., Zackai, E., de Die-Smulders, C. D., Viskochil, D., Stewart, J., Wolff, G., Ohashi, H., et al. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.3.323 · Cited by 245 · see citing works

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Wieland, I., Jakubiczka, S., Muschke, P., Cohen, M. Y., Thiele, H., Gerlach, K. L., Adams, R. H., & Wieacker, P. F. (2004) · The American Journal of Human Genetics · doi:10.1086/421532 · Cited by 243 · see citing works

A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures.

Zhou, Y.-X., Xu, X.-L., Chen, L., Li, C.-L., Brodie, S., & Deng, C.-X. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.13.2001 · Cited by 242 · see citing works

Control of Skeletal Patterning by EphrinB1-EphB Interactions

Compagni, A., Logan, M., Klein, R., & Adams, R. H. (2003) · Developmental Cell · doi:10.1016/s1534-5807(03)00198-9 · Cited by 231 · see citing works

Two FGF-receptor homologues of Drosophila: one is expressed in mesodermal primordium in early embryos

Shishido, E., Higashijima, S., Emori, Y., & Saigo, K. (1993) · Development · doi:10.1242/dev.117.2.751 · Cited by 227 · see citing works

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Sharma, V., Fenwick, A. L., Brockop, M. S., McGowan, S. J., Goos, J. A. C., Hoogeboom, A. J. M., Brady, A. F., Jeelani, O., Lynch, S. A., Mulliken, J. B., et al. (2013) · Nature Genetics · doi:10.1038/ng.2531 · Cited by 226 · see citing works

Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome

Ibrahimi, O., Eliseenkova, A. V., Plotnikov, A., Yu, K., Ornitz, D., & Mohammadi, M. (2001) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.121183798 · Cited by 224 · see citing works

A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis

Eswarakumar, V. P., Horowitz, M. C., Locklin, R. M., Morriss‐Kay, G. M., & Lonai, P. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0405031101 · Cited by 224 · see citing works

The Timing of Physiologic Closure of the Metopic Suture: A Review of 159 Patients Using Reconstructed 3D CT Scans of the Craniofacial Region

Vu, H. L., Panchal, J., Parker, E. E., Levine, N. S., & Francel, P. C. (2001) · Journal of Craniofacial Surgery · doi:10.1097/00001665-200111000-00005 · Cited by 222 · see citing works

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

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 · see citing works

RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis

Shukla, V., Coumoul, X., Wang, R.-H., Kim, H., & Deng, C. (2007) · Nature Genetics · doi:10.1038/ng2096 · Cited by 203 · see citing works

Fgfr2 and osteopontin domains in the developing skull vault are mutually exclusive and can be altered by locally applied FGF2

Iseki, S., Wilkie, A. O. M., Heath, J. K., Ishimaru, T., Eto, K., & Morriss‐Kay, G. M. (1997) · Development · doi:10.1242/dev.124.17.3375 · Cited by 203 · see citing works

Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth

Nieminen, P., Morgan, N. V., Fenwick, A. L., Parmanen, S., Veistinen, L., Mikkola, M. L., van der Spek, P. J., Giraud, A. S., Judd, L. M., Arte, S., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.024 · Cited by 200 · see citing works

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

Laue, K., Pogoda, H.-M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., Rachwalski, M., Morgan, T., Gray, M. J., Breuning, M. H., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.015 · Cited by 188 · see citing works

Analysis of a Caenorhabditis elegans Twist homolog identifies conserved and divergent aspects of mesodermal patterningPreprint

Harfe, B. D., Gomes, A. V., Kenyon, C. J., Liu, J., Krause, M., & Fire, A. Z. (1998) · Genes & Development · doi:10.1101/gad.12.16.2623 · Cited by 186 · see citing works

Twist1 dimer selection regulates cranial suture patterning and fusion

Connerney, J., Andreeva, V., Leshem, Y., Muentener, C., Mercado, M. A., & Spicer, D. B. (2006) · Developmental Dynamics · doi:10.1002/dvdy.20717 · Cited by 185 · see citing works

Fibroblast growth factor receptor 2 mutations in Beare–Stevenson cutis gyrata syndrome

Przylepa, K. A., Paznekas, W. A., Zhang, M., Golabi, M., Bias, W. Β., Bamshad, M. J., Carey, J. C., Hall, B. D., Stevenson, R. E., Orlow, S. J., et al. (1996) · Nature Genetics · doi:10.1038/ng0896-492 · Cited by 181 · see citing works

Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain

Robertson, S. C., Meyer, A. N., Hart, K. C., Galvin, B. D., Webster, M. K., & Donoghue, D. J. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.8.4567 · Cited by 181 · see citing works

A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes

Hajihosseini, M., Wilson, S. W., de Moerlooze, L., & Dickson, C. (2001) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.071586898 · Cited by 179 · see citing works

A Ser250Trp substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis

Chen, L., Li, D., Li, C., Engel, A., & Deng, C. (2003) · Bone · doi:10.1016/s8756-3282(03)00222-9 · Cited by 179 · see citing works

The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

Ma, L. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.12.1915 · Cited by 174 · see citing works

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

Twigg, S. R. F., Vorgia, E., McGowan, S. J., Peraki, I., Fenwick, A. L., Sharma, V., Allégra, M., Ζαραγκούλιας, Α., Akha, E. S., Knight, S. J. L., et al. (2013) · Nature Genetics · doi:10.1038/ng.2539 · Cited by 173 · see citing works

Interleukin‐11 Receptor Signaling Is Required for Normal Bone Remodeling

Sims, N. A., Jenkins, B., Nakamura, A., Quinn, J. M., Li, R.-L., Gillespie, M. T., Ernst, M., Robb, L., & Martin, T. J. (2005) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.050209 · Cited by 171 · see citing works

FGFR2 mutations in Pfeiffer syndrome

Lajeunie, E., Ma, H.-W., Bonaventure, J., Munnich, A., Merrer, M. L., & Rénier, D. (1995) · Nature Genetics · doi:10.1038/ng0295-108 · Cited by 170 · see citing works

odd-paired: a zinc finger pair-rule protein required for the timely activation of engrailed and wingless in Drosophila embryos.Preprint

Benedyk, M., Mullen, J. R., & DiNardo, S. (1994) · Genes & Development · doi:10.1101/gad.8.1.105 · Cited by 164 · see citing works

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H. E., Hughes, B. A., Rose, I. T., O'Neil, D. M., Vijzelaar, R., Smith, M. J., et al. (2012) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2011-0640 · Cited by 163 · cited 1× · see citing works

Mechanical Influences on Suture Development and Patency

Herring, S. W. (2008) · Frontiers of oral physiology/Frontiers of oral biology · doi:10.1159/000115031 · Cited by 162 · see citing works

Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities

Ibrahimi, O. A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh235 · Cited by 153 · see citing works

EphA4as an effector ofTwist1in the guidance of osteogenic precursor cells during calvarial bone growth and in craniosynostosis

Ting, M.-C., Wu, N. L., Roybal, P. G., Sun, J., Liu, L., Yen, Y.-H., & Maxson, R. E. (2009) · Development · doi:10.1242/dev.028605 · Cited by 152 · see citing works

A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis

Yin, L., Du, X., Li, C., Xu, X., Chen, Z., Su, N. Y., Zhao, L., Qi, H., Li, F., Xue, J., et al. (2007) · Bone · doi:10.1016/j.bone.2007.11.019 · Cited by 149 · see citing works

Mouse Rab23 regulates Hedgehog signaling from Smoothened to Gli proteins

Eggenschwiler, J. T., Bulgakov, O. V., Qin, J., Li, T., & Anderson, K. V. (2005) · Developmental Biology · doi:10.1016/j.ydbio.2005.09.022 · Cited by 147 · see citing works

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Justice, C. M., Yagnik, G., Kim, Y., Peter, I., Jabs, E. W., Erazo, M., Ye, X., Ainehsazan, E., Shi, L., Cunningham, M. L., et al. (2012) · Nature Genetics · doi:10.1038/ng.2463 · Cited by 140 · see citing works

Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure

Connerney, J., Andreeva, V., Leshem, Y., Mercado, M. A., Dowell, K. G., Yang, X., Lindner, V., Friesel, R. E., & Spicer, D. B. (2008) · Developmental Biology · doi:10.1016/j.ydbio.2008.03.037 · Cited by 131 · see citing works

opl: a zinc finger protein that regulates neural determination and patterning in Xenopus

Kuo, J. S., Patel, M., Gamse, J. T., Merzdorf, C., Liu, X., Apekin, V., & Sive, H. L. (1998) · Development · doi:10.1242/dev.125.15.2867 · Cited by 129 · see citing works

Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity

Ibrahimi, O. A. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddh011 · Cited by 128 · see citing works

Mechanical influences on suture development and patency.

Herring, S. W. (2008) · PubMed · doi:10.1159/0000115031 · Cited by 125 · see citing works

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

Lajeunie, E., Heuertz, S., Ghouzzi, V. E., Martinovic, J., Rénier, D., Merrer, M. F. L., & Bonaventure, J. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201558 · Cited by 125 · see citing works

FGF9 monomer/dimer equilibrium regulates extracellular matrix affinity and tissue diffusion

Harada, M., Murakami, H., Okawa, A., Okimoto, N., Hiraoka, S., Nakahara, T., Akasaka, R., Shiraishi, Y., Futatsugi, N., Mizutani-Koseki, Y., et al. (2009) · Nature Genetics · doi:10.1038/ng.316 · Cited by 124 · see citing works

Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis

Johnson, D., Iseki, S., Wilkie, A. O. M., & Morriss‐Kay, G. M. (2000) · Mechanisms of Development · doi:10.1016/s0925-4773(99)00278-6 · Cited by 121 · see citing works

Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients

Fukami, M., Nishimura, G., Homma, K., Nagai, T., Hanaki, K., Uematsu, A., Ishii, T., Numakura, C., Sawada, H., Nakacho, M., et al. (2009) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2008-2816 · Cited by 117 · see citing works

Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis

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 · see citing works

Progressive Postnatal Craniosynostosis and Increased Intracranial Pressure

Connolly, J. P., Gruss, J., Seto, M. L., Whelan, M. F., Ellenbogen, R., Weiss, A., Buchman, S. R., & Cunningham, M. L. (2004) · Plastic and Reconstructive Surgery · doi:10.1097/01.prs.0000111593.96440.30 · Cited by 115 · see citing works

Neural crest cell signaling pathways critical to cranial bone development and pathology

Mishina, Y., & Snider, T. N. (2014) · Experimental Cell Research · doi:10.1016/j.yexcr.2014.01.019 · Cited by 114 · see citing works

Developmental Anatomy of Craniofacial Sutures

Rice, D. P. C. (2008) · Frontiers of oral physiology/Frontiers of oral biology · doi:10.1159/000115028 · Cited by 110 · see citing works

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 · see citing works

Fetal constraint as a potential risk factor for craniosynostosis

Sanchez‐Lara, P. A., Carmichael, S. L., Graham, J. M., Lammer, E. J., Shaw, G. M., Ma, C., & Rasmussen, S. A. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33246 · Cited by 106 · see citing works

Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology

Holmes, G., Rothschild, G., Roy, U. B., Deng, C.-X., Mansukhani, A., & Basilico, C. (2009) · Developmental Biology · doi:10.1016/j.ydbio.2009.01.026 · Cited by 104 · see citing works

Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

Klopocki, E., Lohan, S., Brancati, F., Koll, R., Brehm, A., Seemann, P., Dathe, K., Stricker, S., Hecht, J., Bosse, K., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.006 · Cited by 104 · see citing works

Craniosynostosis: A Radiological and Surgical Perspective

Kirmi, O., Lo, S. J., Johnson, D., & Anslow, P. (2009) · Seminars in Ultrasound CT and MRI · doi:10.1053/j.sult.2009.08.002 · Cited by 101 · see citing works

Regulation of cranial morphogenesis and cell fate at the neural crest-mesoderm boundary by engrailed 1

Deckelbaum, R. A., Holmes, G., Zhao, Z., Tong, C., Basilico, C., & Loomis, C. A. (2012) · Development · doi:10.1242/dev.076729 · Cited by 100 · see citing works

Craniofacial Syndromes and Surgery

Forrest, C. R., & Hopper, R. A. (2012) · Plastic & Reconstructive Surgery · doi:10.1097/prs.0b013e318272c12b · Cited by 99 · see citing works

Indian hedgehog positively regulates calvarial ossification and modulates bone morphogenetic protein signaling

Lenton, K. A., James, A. W., Manu, A., Brugmann, S. A., Birker, D., Nelson, E. R., Leucht, P., Helms, J. A., & Longaker, M. T. (2011) · genesis · doi:10.1002/dvg.20768 · Cited by 92 · see citing works

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

Twigg, S. R. F., Lloyd, D., Jenkins, D., Elcioglu, N. H., Cooper, C. D. O., Al-Sannaa, N. A., Annagür, A., Gillessen‐Kaesbach, G., Hüning, I., Knight, S. J. L., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.027 · Cited by 91 · see citing works

Genetic basis of potential therapeutic strategies for craniosynostosis

Melville, H., Wang, Y., Taub, P. J., & Jabs, E. W. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33703 · Cited by 91 · see citing works

Craniosynostosis: imaging review and primer on computed tomography

Badve, C. A., Mallikarjunappa, M. K., Iyer, R. S., Ishak, G. E., & Khanna, P. C. (2013) · Pediatric Radiology · doi:10.1007/s00247-013-2673-6 · Cited by 89 · see citing works

Craniosynostosis in Twist heterozygous mice: A model for Saethre‐Chotzen syndrome

Carver, E. A., Oram, K. F., & Gridley, T. (2002) · The Anatomical Record · doi:10.1002/ar.10124 · Cited by 88 · see citing works

Cell fate specification during calvarial bone and suture development

Lana‐Elola, E., Rice, R., Grigoriadis, A. E., & Rice, D. P. C. (2007) · Developmental Biology · doi:10.1016/j.ydbio.2007.08.028 · Cited by 88 · see citing works

Mechanical stress induces Interleukin-11 expression to stimulate osteoblast differentiation

Kido, S., Kuriwaka-Kido, R., Imamura, T., Ito, Y., Inoue, D., & Matsumoto, T. (2009) · Bone · doi:10.1016/j.bone.2009.07.087 · Cited by 86 · see citing works

Skeletal analysis of the Fgfr3P244R mouse, a genetic model for the Muenke craniosynostosis syndrome

Twigg, S. R. F., Healy, C., Babbs, C., Sharpe, J. A., Wood, W. G., Sharpe, P. T., Morriss‐Kay, G. M., & Wilkie, A. O. M. (2008) · Developmental Dynamics · doi:10.1002/dvdy.21790 · Cited by 82 · see citing works

Fuz Mutant Mice Reveal Shared Mechanisms between Ciliopathies and FGF-Related Syndromes

Tabler, J. M., Barrell, W. B., Szabo‐Rogers, H. L., Healy, C., Yeung, Y., Perdiguero, E. G., Schulz, C., Yannakoudakis, B. Z., Mesbahi, A., Wlodarczyk, B. J., et al. (2013) · Developmental Cell · doi:10.1016/j.devcel.2013.05.021 · Cited by 82 · see citing works

Mechanism of skull suture maintenance and interdigitation

Miura, T., Perlyn, C. A., Kinboshi, M., Ogihara, N., Kobayashi‐Miura, M., Morriss‐Kay, G. M., & Shiota, K. (2009) · Journal of Anatomy · doi:10.1111/j.1469-7580.2009.01148.x · Cited by 81 · see citing works

Differential activation of canonical Wnt signaling determines cranial sutures fate: A novel mechanism for sagittal suture craniosynostosis

Behr, B., Longaker, M. T., & Quarto, N. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.06.009 · Cited by 80 · see citing works

Intracellular Retention, Degradation, and Signaling of Glycosylation-deficient FGFR2 and Craniosynostosis Syndrome-associated FGFR2C278F

Hatch, N. E., Hudson, M. P., Seto, M. L., Cunningham, M. L., & Bothwell, M. A. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m600448200 · Cited by 79 · see citing works

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

Merrill, A. E., Sarukhanov, A., Krejci, P., Idoni, B., Camacho, N., Estrada, K. D., Lyons, K., Deixler, H., Robinson, H., Chitayat, D., et al. (2012) · American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.02.005 · Cited by 79 · see citing works

Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including <i>RUNX2</i> duplication in two cousins with metopic craniosynostosis

Mefford, H. C., Shafer, N., Antonacci, F., Tsai, J. M., Park, S. S., Hing, A. V., Rieder, M. J., Smyth, M. D., Speltz, M. L., Eichler, E. E., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33557 · Cited by 78 · see citing works

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Twigg, S. R. F., Forecki, J., Goos, J. A. C., Richardson, I. C. A., Hoogeboom, A. J. M., van den Ouweland, A. M. W., Swagemakers, S. M. A., Lequin, M. H., Antwerp, D. V., McGowan, S. J., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.07.007 · Cited by 75 · see citing works

Jagged1 functions downstream of Twist1 in the specification of the coronal suture and the formation of a boundary between osteogenic and non-osteogenic cells

Yen, H.-Y., Ting, M.-C., & Maxson, R. E. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.08.010 · Cited by 75 · see citing works

The Kinase Activity of Fibroblast Growth Factor Receptor 3 with Activation Loop Mutations Affects Receptor Trafficking and Signaling

Lievens, P., Mutinelli, C., Baynes, D., & Liboi, E. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m405247200 · Cited by 75 · see citing works

Rescue of cytochrome P450 oxidoreductase (Por) mouse mutants reveals functions in vasculogenesis, brain and limb patterning linked to retinoic acid homeostasis

Ribes, V., Otto, D. M. E., Dickmann, L. J., Schmidt, K., Schuhbaur, B., Henderson, C. J., Blomhoff, R., Wolf, C. R., Tickle, C. A., & Dollé, P. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.10.032 · Cited by 73 · see citing works

The BBSome

Jin, H., & Nachury, M. V. (2009) · Current Biology · doi:10.1016/j.cub.2009.04.015 · Cited by 72 · see citing works

Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families

Lajeunie, E., Crimmins, D. W., Arnaud, É., & Rénier, D. (2005) · Journal of neurosurgery · doi:10.3171/ped.2005.103.4.0353 · Cited by 71 · see citing works

Mesodermal expression of Fgfr2 is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome

Holmes, G., & Basilico, C. (2012) · Developmental Biology · doi:10.1016/j.ydbio.2012.05.026 · Cited by 68 · see citing works

Primary Cilia Integrate Hedgehog and Wnt Signaling during Tooth Development

Liu, B., Chen, S., Cheng, D., Jing, W., & Helms, J. A. (2014) · Journal of Dental Research · doi:10.1177/0022034514528211 · Cited by 67 · see citing works

Expression patterns of fibroblast growth factors-18 and -20 in mouse embryos is suggestive of novel roles in calvarial and limb development

Hajihosseini, M. K., & Heath, J. K. (2002) · Mechanisms of Development · doi:10.1016/s0925-4773(01)00656-6 · Cited by 66 · see citing works

Twist1 mediates repression of chondrogenesis by β-catenin to promote cranial bone progenitor specification

Goodnough, L. H., Chang, A. T., Treloar, C., Yang, J., Scacheri, P. C., & Atit, R. P. (2012) · Development · doi:10.1242/dev.081679 · Cited by 62 · see citing works

The zic1 gene is an activator of Wnt signaling

Merzdorf, C., & Sive, H. L. (2006) · The International Journal of Developmental Biology · doi:10.1387/ijdb.052110cm · Cited by 62 · see citing works

Cholesterol metabolism: the main pathway acting downstream of cytochrome P450 oxidoreductase in skeletal development of the limb

Schmidt, K., Hughes, C., Chudek, J. A., Goodyear, S. R., Aspden, R. M., Talbot, R., Gundersen, T. E., Blomhoff, R., Henderson, C., Wolf, C. R., et al. (2009) · Molecular and Cellular Biology · doi:10.1128/mcb.01638-08 · Cited by 61 · see citing works

Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes

Yu, K., & Ornitz, D. (2001) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.081082498 · Cited by 60 · see citing works

Pure de novo partial trisomy 6p in a girl with craniosynostosis

Varvagiannis, K., Stefanidou, A., Gyftodimou, Y., Lord, H., Williams, L., Sarri, C., Pandelia, E., Bazopoulou-Kyrkanidou, E., Noakes, C., Lester, T., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35727 · Cited by 60 · see citing works

Further Analysis of the Crouzon Mouse: Effects of the FGFR2C342Y Mutation Are Cranial Bone–Dependent

Liu, J., Nam, H. K., Wang, E., & Hatch, N. E. (2013) · Calcified Tissue International · doi:10.1007/s00223-013-9701-2 · Cited by 58 · see citing works

p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice

Wang, Y., Zhou, X., Oberoi, K., Phelps, R. G., Couwenhoven, R. I., Sun, M., Rezza, A., Holmes, G., Percival, C. J., Friedenthal, J., et al. (2012) · Journal of Clinical Investigation · doi:10.1172/jci62644 · Cited by 58 · see citing works

Extrinsic Tension Results in FGF-2 Release, Membrane Permeability Change, and Intracellular Ca ++ Increase in Immature Cranial Sutures

Yu, J. C.-K., Lucas, J. H., Fryberg, K., & Borke, J. L. (2001) · Journal of Craniofacial Surgery · doi:10.1097/00001665-200107000-00018 · Cited by 58 · see citing works

Evidence that Fgf10 contributes to the skeletal and visceral defects of an apert syndrome mouse model

Hajihosseini, M., Duarte, R., Pegrum, J., Donjacour, A., Lana-Elola, E., Rice, D., Sharpe, J., & Dickson, C. (2009) · Developmental Dynamics · doi:10.1002/dvdy.21648 · Cited by 58 · see citing works

Direct Assessment of the Effect of the Gly380Arg Achondroplasia Mutation on FGFR3 Dimerization Using Quantitative Imaging FRET

Placone, J. K., & Hristova, K. A. (2012) · PLoS ONE · doi:10.1371/journal.pone.0046678 · Cited by 53 · see citing works

Craniosynostosis of Coronal Suture in Twist1+/− Mice Occurs Through Endochondral Ossification Recapitulating the Physiological Closure of Posterior Frontal Suture

Behr, B., Longaker, M. T., & Quarto, N. (2011) · Frontiers in Physiology · doi:10.3389/fphys.2011.00037 · Cited by 52 · see citing works

Expression of Indian Hedgehog, BMP-4 and Noggin in Craniosynostosis Induced by Fetal Constraint

Jacob, S., Wu, C., Freeman, T. A., Koyama, E., & Kirschner, R. E. (2007) · Annals of Plastic Surgery · doi:10.1097/01.sap.0000232833.41739.a5 · Cited by 51 · see citing works

Cranial Suture Biology

Lévi, B., Wan, D. C., Wong, V., Nelson, E. R., Hyun, J. S., & Longaker, M. T. (2012) · Journal of Craniofacial Surgery · doi:10.1097/scs.0b013e318240c6c0 · Cited by 50 · see citing works

Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2)

Khonsari, R. H., Ohazama, A., Raouf, R., Kawasaki, M., Kawasaki, K., Porntaveetus, T., Ghafoor, S., Hammond, P., Suttie, M., Odri, G. A., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt041 · Cited by 50 · see citing works

Tracing craniosynostosis to its developmental stage through bone center displacement.

Mathijssen, I. M. J., van Splunder, J., Vermeij‐Keers, C., Pieterman, H., de Jong, T. H. R., Mooney, M. P., & Vaandrager, J. M. (1999) · PubMed · Cited by 48 · see citing works

Crouzon Syndrome: Phenotypic Signs and Symptoms of the Postnatally Expressed Subtype

Hoefkens, M. F., Vermeij-Keers, C., & Vaandrager, J. M. (2004) · Journal of Craniofacial Surgery · doi:10.1097/00001665-200403000-00013 · Cited by 47 · see citing works

Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency

Minegishi, Y., & Karasuyama, H. (2007) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0b013e3282f1baea · Cited by 46 · see citing works

A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a

Liu, B., Chen, S., Johnson, C. A., & Helms, J. A. (2014) · Reproductive Toxicology · doi:10.1016/j.reprotox.2014.05.009 · Cited by 43 · see citing works

The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor

Bonaventure, J., Gibbs, L., Horne, W. C., & Baron, R. (2007) · FEBS Journal · doi:10.1111/j.1742-4658.2007.05835.x · Cited by 42 · see citing works

A mathematical model for mechanotransduction at the early steps of suture formation

Khonsari, R. H., Olivier, J., Vigneaux, P., Sanchez, S., Tafforeau, P., Ahlberg, P., Rocco, F. D., Bresch, D., Corre, P., Ohazama, A., et al. (2013) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2012.2670 · Cited by 41 · see citing works

Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fatesPreprint

Mansour, S., Li, C., & Urness, L. (2013) · Genes & Development · doi:10.1101/gad.228957.113 · Cited by 38 · see citing works

Tracing Craniosynostosis to Its Developmental Stage Through Bone Center Displacement

Mathijssen, I. M. J., van Splunder, J., Vermeij‐Keers, C., Pieterman, H., de Jong, T. H. R., Mooney, M. P., Vaandrager, J. M., & Eppley, B. L. (1999) · Journal of Craniofacial Surgery · doi:10.1097/00001665-199911000-00014 · Cited by 37 · see citing works

Therapeutic Effect of Nanogel-Based Delivery of Soluble FGFR2 with S252W Mutation on Craniosynostosis

Yokota, M., Kobayashi, Y., Morita, J., Suzuki, H., Hashimoto, Y., Sasaki, Y., Akiyoshi, K., & Moriyama, K. (2014) · PLoS ONE · doi:10.1371/journal.pone.0101693 · Cited by 35 · see citing works

Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.

Neben, C., Idoni, B., Salva, J. E., Tuzon, C. T., Rice, J., Krakow, D., & Merrill, A. E. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu282 · Cited by 35 · see citing works

Implications of a Vertex Bulge following Modified Strip Craniectomy for Sagittal Synostosis

Marucci, D. D., Johnston, C. P., Anslow, P., Jayamohan, J., Richards, P. G., Wilkie, A. O. M., & Wall, S. A. (2008) · Plastic & Reconstructive Surgery · doi:10.1097/prs.0b013e3181774240 · Cited by 34 · see citing works

Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways

Takenouchi, T., Sakamoto, Y., Miwa, T., Torii, C., Kosaki, R., Kishi, K., Takahashi, T., & Kosaki, K. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36705 · Cited by 34 · see citing works

The role of vertebrate models in understanding craniosynostosis

Holmes, G. (2012) · Child s Nervous System · doi:10.1007/s00381-012-1844-3 · Cited by 32 · see citing works

Cancer drugs to treat birth defects

Wilkie, A. O. M. (2007) · Nature Genetics · doi:10.1038/ng0907-1057 · Cited by 30 · see citing works

Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency

Fukami, M., Nagai, T., Mochizuki, H., Muroya, K., Yamada, G., Takitani, K., & Ogata, T. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2010.03.023 · Cited by 30 · see citing works

Central nervous system malformations and deformations in FGFR2‐related craniosynostosis

Khonsari, R. H., Delezoide, A., Kang, W., Hébert, J. M., Bessières, B., Bodiguel, V., Collet, C., Legeai‐Mallet, L., Sharpe, P. T., & Fallet‐Bianco, C. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35598 · Cited by 26 · see citing works

Primary cilium mechanotransduction of tensile strain in 3D culture: Finite element analyses of strain amplification caused by tensile strain applied to a primary cilium embedded in a collagen matrix

Mathieu, P. S., Bodle, J. C., & Loboa, E. G. (2014) · Journal of Biomechanics · doi:10.1016/j.jbiomech.2014.04.004 · Cited by 18 · see citing works

If the skull fits: magnetic resonance imaging and microcomputed tomography for combined analysis of brain and skull phenotypes in the mouse

Nieman, B. J., Blank, M. C., Roman, B. B., Henkelman, R. M., & Millen, K. J. (2012) · Physiological Genomics · doi:10.1152/physiolgenomics.00093.2012 · Cited by 18 · see citing works

Duplication of theEFNB1gene in familial hypertelorism: imbalance in ephrin‐B1 expression and abnormal phenotypes in humans and mice

Babbs, C., Stewart, H. S., Williams, L. J., Connell, L., Goriely, A., Twigg, S. R. F., Smith, K. K., Lester, T., & Wilkie, A. O. M. (2011) · Human Mutation · doi:10.1002/humu.21521 · Cited by 16 · see citing works

The Fgfr2 W290R mouse model of Crouzon syndrome

Gong, S.-G. (2012) · Child s Nervous System · doi:10.1007/s00381-012-1792-y · Cited by 16 · see citing works

Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: Two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q

Ishikawa, T., Kibe, T., & Wada, Y. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960424)62:4 · Cited by 13 · see citing works

Untitled work

(2011) · doi:10.1159/isbn.978-3-8055-9595-7 · Cited by 11 · see citing works

MSX2Gene Duplication in a Patient with Eye Development Defects

Plaisancié, J., Collet, C., Pelletier, V., Perdomo-Trujillo, Y., Studer, F., Fradin, M., Schaefer, É., Speeg‐Schatz, C., Bloch‐Zupan, A., Flori, E., et al. (2014) · Ophthalmic Genetics · doi:10.3109/13816810.2014.886270 · Cited by 10 · see citing works

Craniosynostosis and Chromosomal Alterations

Passos‐Bueno, M. R., Fanganiello, R. D., & Jehee, F. S. (2011) · Monographs in human genetics · doi:10.1159/000319987 · Cited by 8 · see citing works

Craniosynostosis - Recognition, clinical characteristics, and treatment

Kajdic, N., Spazzapan, P., & Velnar, T. (2017) · Bosnian Journal of Basic Medical Sciences · doi:10.17305/bjbms.2017.2083 · Cited by 213 · see citing works

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

Schwerd, T., Twigg, S. R. F., Aschenbrenner, D., Manrique, S., Miller, K. A., Taylor, I. B., Capitani, M., McGowan, S. J., Sweeney, E. A., Weber, A. P., et al. (2017) · The Journal of Experimental Medicine · doi:10.1084/jem.20161810 · Cited by 204 · see citing works

Clinical genetics of craniosynostosis

Wilkie, A. O. M., Johnson, D., & Wall, S. A. (2017) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000542 · Cited by 204 · see citing works

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

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 195 · see citing works

Making and shaping endochondral and intramembranous bones

Galea, G. L., Zein, M. R., Allen, S., & Francis‐West, P. H. (2020) · Developmental Dynamics · doi:10.1002/dvdy.278 · Cited by 188 · see citing works

Developmental Biology of the Meninges

Dasgupta, K., & Jeong, J. (2019) · Genesis · doi:10.1002/dvg.23288 · Cited by 141 · see citing works

Cranial Suture Regeneration Mitigates Skull and Neurocognitive Defects in Craniosynostosis

Yu, M., Ma, L., Yuan, Y., Ye, X., Montagne, A., He, J., Ho, T., Wu, Y., Zhao, Z., Maria, N. S. S., et al. (2021) · Cell · doi:10.1016/j.cell.2020.11.037 · Cited by 160 · see citing works

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 · see citing works

Understanding craniosynostosis as a growth disorder

Flaherty, K., Singh, N., & Richtsmeier, J. T. (2016) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.227 · Cited by 123 · see citing works

Diagnostic value of exome and whole genome sequencing in craniosynostosis

Miller, K. A., Twigg, S. R. F., McGowan, S. J., Phipps, J. M., Fenwick, A. L., Johnson, D., Wall, S. A., Noons, P., Rees, K. E. M., Tidey, E. A., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104215 · Cited by 121 · see citing works

Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Fenwick, A. L., Kliszczak, M., Cooper, F., Murray, J., Sánchez‐Pulido, L., Twigg, S. R. F., Goriely, A., McGowan, S. J., Miller, K. A., Taylor, I. B., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.05.019 · Cited by 118 · see citing works

A multi-omic atlas of human embryonic skeletal development

To, K., Fei, L., Pett, J. P., Roberts, K., Blain, R., Polański, K., Li, T., Yayon, N., He, P., Xu, C., et al. (2024) · Nature · doi:10.1038/s41586-024-08189-z · Cited by 118 · see citing works

The clinical manifestations, molecular mechanisms and treatment of craniosynostosis

Stanton, E. W., Urata, M. M., Chen, J.-F., & Chai, Y. (2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049390 · Cited by 113 · see citing works

The developing mouse coronal suture at single-cell resolution

Farmer, D. T., Mlčochová, H., Zhou, Y., Koelling, N., Wang, G., Ashley, N., Bugacov, H., Chen, H.-J., Parvez, R. K., Tseng, K.-C., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24917-9 · Cited by 106 · see citing works

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

Timberlake, A. T., Furey, C. G., Choi, J., Nelson-Williams, C. J., Loring, E. C., Galm, A., Kahle, K. T., Steinbacher, D. M., Larysz, D., Persing, J. A., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1709255114 · Cited by 101 · see citing works

A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

Twigg, S. R. F., Hufnagel, R. B., Miller, K. A., Zhou, Y., McGowan, S. J., Taylor, J., Craft, J., Taylor, J. C., Santoro, S. L., Huang, T., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.04.007 · Cited by 93 · see citing works

Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds

Mansour, T. A., Lucot, K. L., Konopelski, S. E., Dickinson, P. J., Sturges, B. K., Vernau, K. L., Choi, S. S., Stern, J. A., Thomasy, S. M., Döring, S., et al. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007850 · Cited by 82 · see citing works

A multi-stem cell basis for craniosynostosis and calvarial mineralization

Bok, S., Yallowitz, A. R., Sun, J., McCormick, J., Cung, M., Hu, L., Lalani, S., Li, Z., Sosa, B. R., Baumgartner, T., et al. (2023) · Nature · doi:10.1038/s41586-023-06526-2 · Cited by 82 · see citing works

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Twigg, S. R. F., Forecki, J., Goos, J. A. C., Richardson, I. C. A., Hoogeboom, A. J. M., van den Ouweland, A. M. W., Swagemakers, S. M. A., Lequin, M. H., Antwerp, D. V., McGowan, S. J., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.07.007 · Cited by 75 · see citing works

Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis

Holmes, G., Gonzalez-Reiche, A. S., Lü, N., Zhou, X., Rivera, J., Kriti, D., Sebra, R., Williams, A. A., Donovan, M. J., Potter, S. S., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107871 · Cited by 69 · see citing works

Signaling mechanisms implicated in cranial sutures pathophysiology: Craniosynostosis

Katsianou, M. A., Adamopoulos, C., Vastardis, H., & Basdra, E. K. (2016) · BBA Clinical · doi:10.1016/j.bbacli.2016.04.006 · Cited by 66 · see citing works

The FaceBase Consortium: A comprehensive resource for craniofacial researchers

Brinkley, J. F., Fisher, S., Harris, M. P., Holmes, G., Hooper, J. E., Jabs, E. W., Jones, K. L., Kesselman, C., Klein, O. D., Maas, R. L., et al. (2016) · Development · doi:10.1242/dev.135434 · Cited by 64 · see citing works

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Ehmke, N., Graul-Neumann, L. M., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P. L., Scaglia, F., Kilic, E., Hennig, A. F., Adolphs, N., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.09.016 · Cited by 67 · see citing works

Genetic Causes of Craniosynostosis: An Update

Goos, J. A. C., & Mathijssen, I. M. J. (2018) · Molecular Syndromology · doi:10.1159/000492266 · Cited by 67 · see citing works

Epidemiology of craniosynostosis in Norway

Tønne, E., Due-Tønnessen, B. J., Wiig, U., Stadheim, B. F., Meling, T. R., Helseth, E., & Heimdal, K. R. (2020) · Journal of Neurosurgery Pediatrics · doi:10.3171/2020.1.peds2051 · Cited by 66 · see citing works

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Calpena, E., Hervieu, A., Kaserer, T., Swagemakers, S. M. A., Goos, J. A. C., Adeniji-Popoola, O., Ortiz-Ruiz, M. J., Barbaro‐Dieber, T., Bownass, L., Brilstra, E. H., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.02.006 · Cited by 66 · see citing works

Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis

Siismets, E. M., & Hatch, N. E. (2020) · Journal of Developmental Biology · doi:10.3390/jdb8030018 · Cited by 63 · see citing works

Skeletal stem and progenitor cells maintain cranial suture patency and prevent craniosynostosis

Menon, S., Salhotra, A., Shailendra, S., Tevlin, R., Ransom, R. C., Januszyk, M., Chan, C. K. F., Behr, B., Wan, D. C., Longaker, M. T., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24801-6 · Cited by 66 · see citing works

Syndromic Craniosynostosis: Complexities of Clinical Care

O’Hara, J., Ruggiero, F., Wilson, L. C., James, G., Glass, G. E., Jeelani, O., Ong, J., Bowman, R. J. C., Wyatt, M., Evans, R. D., et al. (2019) · Molecular Syndromology · doi:10.1159/000495739 · Cited by 64 · see citing works

Recent Advances in Craniosynostosis

Yilmaz, E., Mihci, E., Nur, B., Alper, Ö. M., & Taçoy, Ş. (2019) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2019.01.018 · Cited by 63 · see citing works

Cranial Suture Mesenchymal Stem Cells: Insights and Advances

Li, B., Wang, Y., Fan, Y., Ouchi, T., Zhao, Z., & Li, L. (2021) · Biomolecules · doi:10.3390/biom11081129 · Cited by 56 · see citing works

Resolving homology in the face of shifting germ layer origins: Lessons from a major skull vault boundary

Teng, C. S., Cavin, L., Maxson, R. E., Sánchez-Villagra, M. R., & Crump, J. G. (2019) · eLife · doi:10.7554/elife.52814 · Cited by 50 · see citing works

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Calpena, E., Cuellar, A., Bala, K., Swagemakers, S. M. A., Koelling, N., McGowan, S. J., Phipps, J. M., Balasubramanian, M., Cunningham, M. L., Douzgou, S., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0817-2 · Cited by 51 · see citing works

ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

Glass, G. E., O’Hara, J., Canham, N. L. E., Cilliers, D. D., Dunaway, D. J., Fenwick, A. L., Jeelani, O., Johnson, D., Lester, T., Lord, H., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61073 · Cited by 50 · see citing works

Crouzon syndrome: Genetic and intervention review

Al-Namnam, N. M., Hariri, F., Thong, M., & Rahman, Z. A. A. (2018) · Journal of Oral Biology and Craniofacial Research · doi:10.1016/j.jobcr.2018.08.007 · Cited by 45 · see citing works

Nonsyndromic Craniosynostosis and Deformational Head Shape Disorders

Morris, L. M. (2016) · Facial Plastic Surgery Clinics of North America · doi:10.1016/j.fsc.2016.06.007 · Cited by 45 · see citing works

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms

Clarke, C. M., Fok, V. T., Gustafson, J. A., Smyth, M. D., Timms, A. E., Frazar, C. D., Smith, J. D., Birgfeld, C. B., Lee, A., Ellenbogen, R. G., et al. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38540 · Cited by 44 · see citing works

A tale of two cities: The genetic mechanisms governing calvarial bone development

Ferguson, J. W., & Atit, R. P. (2018) · genesis · doi:10.1002/dvg.23248 · Cited by 43 · see citing works

Single-cell analysis identifies a key role for Hhip in murine coronal suture development

Holmes, G., Gonzalez-Reiche, A. S., Saturne, M., Perrine, S. M. M., Zhou, X., Borges, A. C., Shewale, B., Richtsmeier, J. T., Zhang, B., van Bakel, H., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-27402-5 · Cited by 41 · see citing works

Signaling Mechanisms Underlying Genetic Pathophysiology of Craniosynostosis

Wu, X., & Gu, Y. F. (2019) · International Journal of Biological Sciences · doi:10.7150/ijbs.29183 · Cited by 38 · see citing works

The recurrentPPP1CBmutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype

Bertola, D. R., Yamamoto, G. L., Buscarilli, M., Jorge, A. A. L., Passos‐Bueno, M. R., & Kim, C. A. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38070 · Cited by 36 · see citing works

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

Goos, J. A. C., Vogel, W., Mlčochová, H., Millard, C. J., Esfandiari, E., Selman, W. H., Calpena, E., Koelling, N., Carpenter, E. L., Swagemakers, S. M. A., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz072 · Cited by 35 · see citing works

BMP signaling during craniofacial development: new insights into pathological mechanisms leading to craniofacial anomalies

Ueharu, H., & Mishina, Y. M. (2023) · Frontiers in Physiology · doi:10.3389/fphys.2023.1170511 · Cited by 36 · see citing works

An Overview of Craniosynostosis Craniofacial Syndromes for Combined Orthodontic and Surgical Management

Azoulay-Avinoam, S., Bruun, R. A., MacLaine, J., Allareddy, V., Resnick, C. M., & Padwa, B. L. (2020) · Oral and Maxillofacial Surgery Clinics of North America · doi:10.1016/j.coms.2020.01.004 · Cited by 36 · see citing works

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

Timberlake, A. T., Jin, S. C., Nelson-Williams, C. J., Wu, R. T., Furey, C. G., Islam, B., Haider, S. M., Loring, E. C., Galm, A., Steinbacher, D. M., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1902041116 · Cited by 33 · see citing works

IL11RA‐ related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences

Brischoux‐Boucher, E., Trimouille, A., Baujat, G., Goldenberg, A., Schaefer, É., Guichard, B., Hannequin, P., D, G. P. M., Baer, S., Cabrol, C., et al. (2018) · Clinical Genetics · doi:10.1111/cge.13409 · Cited by 32 · see citing works

BmpR1A is a major type 1 BMP receptor for BMP-Smad signaling during skull development

Pan, H., Zhang, H., Abraham, P., Komatsu, Y., Lyons, K. M., Kaartinen, V., & Mishina, Y. M. (2017) · Developmental Biology · doi:10.1016/j.ydbio.2017.06.020 · Cited by 32 · see citing works

Signaling networks in joint development

Salva, J. E., & Merrill, A. E. (2016) · Developmental Dynamics · doi:10.1002/dvdy.24472 · Cited by 30 · see citing works

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

Middelkamp, S., van Heesch, S., Braat, A. K., de Ligt, J., van Iterson, M., Simonis, M., van Roosmalen, M. J., Kelder, M. J. E., Kruisselbrink, E., Hochstenbach, R., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0399-z · Cited by 31 · see citing works

SMAD6-deficiency in human genetic disorders

Luyckx, I., Verstraeten, A., Goumans, M., & Loeys, B. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00338-5 · Cited by 34 · see citing works

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

Schwerd, T., Krause, F., Twigg, S. R. F., Aschenbrenner, D., Chen, Y., Borgmeyer, U., Müller, M., Manrique, S., Schumacher, N., Wall, S. A., et al. (2020) · Bone Research · doi:10.1038/s41413-020-0098-z · Cited by 30 · see citing works

GLI1 and AXIN2 Are Distinctive Markers of Human Calvarial Mesenchymal Stromal Cells in Nonsyndromic Craniosynostosis

Pietro, L. D., Barba, M., Prampolini, C., Ceccariglia, S., Frassanito, P., Vita, A., Guadagni, E., Bonvissuto, D., Massimi, L., Tamburrini, G., et al. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21124356 · Cited by 30 · see citing works

Insights Into the Complexity of Craniofacial Development From a Cellular Perspective

Murillo‐Rincón, A. P., & Kaucká, M. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.620735 · Cited by 31 · see citing works

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Hyder, Z., Calpena, E., Pei, Y., Tooze, R. S., Brittain, H. K., Twigg, S. R. F., Cilliers, D. D., Morton, J. E. V., McCann, E., Weber, A. P., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01297-5 · Cited by 28 · see citing works

Molecular Mechanisms Involved in Craniosynostosis

YAPIJAKIS, C., PACHIS, N., SOTIRIADOU, T., VAILA, C., MICHOPOULOU, V., & VASSILIOU, S. (2023) · In Vivo · doi:10.21873/invivo.13052 · Cited by 28 · see citing works

STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome

Goel, S., Sahu, S., Minz, R. W., Singh, S., Suri, D., Oh, Y. M., Rawat, A. K., Sehgal, S., & Saikia, B. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.01080 · Cited by 28 · see citing works

Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape

Goovaerts, S., Hoskens, H., Eller, R. J., Herrick, N., Musolf, A. M., Justice, C. M., Yuan, M., Naqvi, S., Lee, M. K., Vandermeulen, D., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-43237-8 · Cited by 27 · see citing works

Cell Mechanics of Craniosynostosis

Al‐Rekabi, Z., Cunningham, M. L., & Sniadecki, N. J. (2016) · ACS Biomaterials Science & Engineering · doi:10.1021/acsbiomaterials.6b00557 · Cited by 27 · see citing works

Molecular patterning of the embryonic cranial mesenchyme revealed by genome-wide transcriptional profiling

Dasgupta, K., Chung, J. U., Asam, K. R., & Jeong, J. (2019) · Developmental Biology · doi:10.1016/j.ydbio.2019.07.015 · Cited by 25 · see citing works

Epidemiology, Genetics, and Pathophysiology of Craniosynostosis

Blessing, M. S., & Gallagher, E. R. (2022) · Oral and Maxillofacial Surgery Clinics of North America · doi:10.1016/j.coms.2022.02.001 · Cited by 27 · see citing works

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

Tønne, E., Due‐Tønnessen, B. J., Mero, I., Wiig, U. S., Kulseth, M. A., Vigeland, M. D., Sheng, Y., von der Lippe, C., Tveten, K., Meling, T. R., et al. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-00788-4 · Cited by 26 · see citing works

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

Provenzano, A., Barbera, A. L., Scagnet, M., Pagliazzi, A., Traficante, G., Pantaleo, M., Tiberi, L., Vergani, D., Kurtas, N. E., Guarducci, S., et al. (2020) · Human Genetics · doi:10.1007/s00439-020-02231-6 · Cited by 26 · see citing works

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

Timberlake, A. T., McGee, S., Allington, G., Kiziltug, E., Wolfe, E. M., Stiegler, A. L., Boggon, T. J., Sanyoura, M., Morrow, M. M., Wenger, T. L., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.03.017 · Cited by 26 · see citing works

Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing

Yoon, J. G., Hahn, H. M., Choi, S., Kim, S., Aum, S., Yu, J. W., Park, E.-K., Shim, K., Lee, M. G., & Kim, Y. O. (2019) · Neurosurgery · doi:10.1093/neuros/nyz470 · Cited by 26 · see citing works

Effects of In Utero Thyroxine Exposure on Murine Cranial Suture Growth

Howie, R. N., Durham, E. L., Black, L. E., Bennfors, G., Parsons, T. E., Elsalanty, M. E., Yu, J. C.-K., Weinberg, S. M., & Cray, J. (2016) · PLoS ONE · doi:10.1371/journal.pone.0167805 · Cited by 25 · see citing works

Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets

Vakharia, J. D., Matlock, K. A., Taylor, H. O. B., Backeljauw, P. F., & Topor, L. S. (2018) · PEDIATRICS · doi:10.1542/peds.2017-2522 · Cited by 25 · see citing works

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples

Zollino, M., Lattante, S., Orteschi, D., Frangella, S., Doronzio, P. N., Contaldo, I., Mercuri, E. M., & Marangi, G. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00587 · Cited by 26 · see citing works

Demographic characteristics of craniosynostosis patients in Asia

Byun, I. H., Hong, J. W., Hussein, M. A., & Kim, Y. O. (2018) · Journal of Cranio-Maxillofacial Surgery · doi:10.1016/j.jcms.2018.02.008 · Cited by 26 · see citing works

Non-syndromic craniosynostosis

Alperovich, M., Tonello, C., Mayes, L. C., & Kahle, K. T. (2025) · Nature Reviews Disease Primers · doi:10.1038/s41572-025-00607-4 · Cited by 26 · see citing works

Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis

Cuellar, A., Bala, K., Di Pietro, L., Barba, M., Yagnik, G., Liu, J. L., Stevens, C., Hur, D. J., Ingersoll, R. G., Justice, C. M., et al. (2020) · Bone · doi:10.1016/j.bone.2020.115395 · Cited by 24 · see citing works

RAB23 coordinates early osteogenesis by repressing FGF10-pERK1/2 and GLI1

Hasan, M. R., Takatalo, M. S., Ma, H., Rice, R., Mustonen, T., & Rice, D. P. C. (2020) · eLife · doi:10.7554/elife.55829 · Cited by 24 · see citing works

Anti-osteogenic function of a LIM-homeodomain transcription factor LMX1B is essential to early patterning of the calvaria

Cesario, J. M., Malt, A. L., Chung, J. U., Khairallah, M. P., Dasgupta, K., Asam, K. R., Deacon, L. J., Choi, V., Almaidhan, A. A., Darwiche, N. A., et al. (2018) · Developmental Biology · doi:10.1016/j.ydbio.2018.05.022 · Cited by 21 · see citing works

FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.

Cornille, M., Moriceau, S., Khonsari, R. H., Heuzé, Y., Loisay, L., Boitez, V., Morice, A., Arnaud, É., Collet, C., Bensidhoum, M., et al. (2022) · PubMed Central · doi:10.1084/jem.20201879 · Cited by 22 · see citing works

Activation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis

Al‐Rekabi, Z., Wheeler, M. M., Leonard, A., Fura, A. M., Juhlin, I., Frazar, C., Smith, J. D., Park, S. S., Gustafson, J. A., Clarke, C. M., et al. (2015) · Journal of Cell Science · doi:10.1242/jcs.175976 · Cited by 22 · see citing works

Craniosynostosis and Resynostosis

Hermann, C. D., Hyzy, S. L., Olivares‐Navarrete, R., Walker, M., Williams, J. K., Boyan, B. D., & Schwartz, Z. (2016) · Journal of Dental Research · doi:10.1177/0022034516643315 · Cited by 21 · see citing works

Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders

Chen, C., Jiang, Y., Xu, C., Liu, X., Hu, L., Xiang, Y., Chen, Q., Chen, D., Li, H., Xu, X., et al. (2016) · Database · doi:10.1093/database/baw127 · Cited by 21 · see citing works

PIN1 is a new therapeutic target of craniosynostosis

Shin, H., Bae, H., Kim, B. S., Yoon, H. I., Cho, Y., Kim, W. J., Choi, K., Lee, Y., Woo, K. M., Baek, J., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy252 · Cited by 21 · see citing works

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

Timberlake, A. T., Kiziltug, E., Jin, S. C., Nelson-Williams, C. J., Loring, E. C., Allocco, A. A., Marlier, A., Banka, S., Stuart, H. M., Passos-Buenos, M. R., et al. (2022) · Human Genetics · doi:10.1007/s00439-022-02477-2 · Cited by 20 · see citing works

Dissecting calvarial bones and sutures at single‐cell resolution

Li, B., Li, J., Fan, Y., Zhao, Z., Li, L., Okano, H., & Ouchi, T. (2023) · Biological reviews/Biological reviews of the Cambridge Philosophical Society · doi:10.1111/brv.12975 · Cited by 20 · see citing works

Characterization of Perinatal Risk Factors and Complications Associated With Nonsyndromic Craniosynostosis

Sergesketter, A. R., Elsamadicy, A. A., Lubkin, D. T., Krucoff, K. B., Krucoff, M. O., & Muh, C. R. (2018) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000004997 · Cited by 20 · see citing works

Adeno-Associated Virus-Mediated RNAi against Mutant Alleles Attenuates Abnormal Calvarial Phenotypes in an Apert Syndrome Mouse Model

Luo, F., Xie, Y., Wang, Z., Huang, J., Tan, Q., Sun, X., Li, F., Li, C., Liu, M., Zhang, D., et al. (2018) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2018.09.012 · Cited by 20 · see citing works

BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche

Barba, M., Di Pietro, L., Massimi, L., Geloso, M. C., Frassanito, P., Caldarelli, M., Michetti, F., Della Longa, S., Romitti, P. A., Di Rocco, C., et al. (2018) · Bone · doi:10.1016/j.bone.2018.04.013 · Cited by 19 · see citing works

Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis

Tiberio, F., Parolini, O., & Lattanzi, W. (2021) · Genes · doi:10.3390/genes12071073 · Cited by 19 · see citing works

RhoA/ROCK-TAZ Axis regulates bone formation within calvarial trans-sutural distraction osteogenesis

Ye, J., Wang, J., Zhao, J., Xia, M., Wang, H., Sun, L., & Zhang, W. (2024) · Cellular Signalling · doi:10.1016/j.cellsig.2024.111300 · Cited by 18 · see citing works

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

Kloth, K., Bierhals, T., Johannsen, J., Harms, F. L., Juusola, J., Johnson, M. C., Grange, D. K., & Kutsche, K. (2019) · Human Genetics · doi:10.1007/s00439-019-02011-x · Cited by 18 · see citing works

Chiari I malformation in defined genetic syndromes in children: are there common pathways?

Saletti, V., Viganò, I., Melloni, G., Pantaleoni, C., Vetrano, I. G., & Valentini, L. G. (2019) · Child s Nervous System · doi:10.1007/s00381-019-04319-5 · Cited by 20 · see citing works

NGS targeted screening of 100 Scandinavian patients with coronal synostosis

Topa, A., Rohlin, A., Andersson, M. K., Fehr, A., Lovmar, L., Stenman, G., & Kölby, L. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61427 · Cited by 18 · see citing works

Inducible Activation of FGFR2 in Adult Mice Promotes Bone Formation After Bone Marrow Ablation

Xu, W., Luo, F., Wang, Q., Tan, Q., Huang, J., Zhou, S., Wang, Z., Sun, X., Kuang, L., Jin, M., et al. (2017) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.3204 · Cited by 18 · see citing works

Mouse models for the study of cranial base growth and anomalies

Vora, S. R. (2017) · Orthodontics &amp; Craniofacial Research · doi:10.1111/ocr.12180 · Cited by 17 · see citing works

Cranium growth, patterning and homeostasis

Ang, P. S., Matrongolo, M. J., Zietowski, M. L., Nathan, S. L., Reid, R. R., & Tischfield, M. A. (2022) · Development · doi:10.1242/dev.201017 · Cited by 18 · see citing works

Embryonic requirements forTcf12in the development of the mouse coronal suture

Ting, M.-C., Farmer, D. T., Teng, C. S., He, J., Chai, Y., Crump, J. G., & Maxson, R. E. (2021) · Development · doi:10.1242/dev.199575 · Cited by 17 · see citing works

The growth and expansion of meningeal lymphatic networks are affected in craniosynostosis

Ang, P. S., Matrongolo, M. J., & Tischfield, M. A. (2021) · Development · doi:10.1242/dev.200065 · Cited by 17 · see citing works

Mapping genetic variants for cranial vault shape in humans

Roosenboom, J., Lee, M. K., Hecht, J. T., Heike, C. L., Wehby, G. L., Christensen, K., Feingold, E., Marazita, M. L., Maga, A. M., Shaffer, J. R., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0196148 · Cited by 16 · see citing works

An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis

Seda, M., Geerlings, M. J., Lim, P., Jeyabalan, J., Cichon, A.-C., Scambler, P. J., Beales, P. L., Hernández-Hernández, V., Stoker, A. W., & Jenkins, D. (2018) · Molecular Syndromology · doi:10.1159/000491567 · Cited by 17 · see citing works

The genetic overlap between osteoporosis and craniosynostosis

Kague, É., Medina‐Gómez, C., Boyadjiev, S. A., & Rivadeneira, F. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1020821 · Cited by 16 · see citing works

Rapamycin rescues BMP mediated midline craniosynostosis phenotype through reduction of mTOR signaling in a mouse model

Kramer, K., Yang, J., Swanson, W. B., Hayano, S., Toda, M., Pan, H., Kim, J. K., Krebsbach, P. H., & Mishina, Y. M. (2018) · genesis · doi:10.1002/dvg.23220 · Cited by 17 · see citing works

Erf Affects Commitment and Differentiation of Osteoprogenitor Cells in Cranial Sutures via the Retinoic Acid Pathway

Vogiatzi, A., Baltsavia, I., Dialynas, E., Theodorou, V., Zhou, Y., Deligianni, E., Iliopoulos, I., Wilkie, A. O. M., Twigg, S. R. F., & Mavrothalassitis, G. (2021) · Molecular and Cellular Biology · doi:10.1128/mcb.00149-21 · Cited by 15 · see citing works

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

Tooze, R. S., Miller, K. A., Swagemakers, S. M. A., Calpena, E., McGowan, S. J., Boute, O., Collet, C., Johnson, D. H., Laffargue, F., de Leeuw, N., et al. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2023.100883 · Cited by 15 · see citing works

Craniosynostosis: Clinical Presentation, Genetics, and Prenatal Diagnosis

Brah, T. K., Thind, R., & Abel, D. E. (2020) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0000000000000830 · Cited by 15 · see citing works

Symmetry and Aesthetics in Dentistry

Runte, C., & Dirksen, D. (2021) · Symmetry · doi:10.3390/sym13091741 · Cited by 15 · see citing works

This Month in The Journal

Ratzel, S., & Cullinan, S. B. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.08.006

Signaling Mechanisms Underlying Genetic Pathophysiology of Craniosynostosis

Wu, X., & Gu, Y. F. (2019) · International Journal of Biological Sciences · doi:10.7150/ijbs.29183 · Cited by 38 · see citing works

The pathogenesis of craniosynostosis in the fetus

Warren, S. M., & Longaker, M. T. (2001) · Yonsei Medical Journal · doi:10.3349/ymj.2001.42.6.646 · Cited by 53 · see citing works

Molecular Genetics of Craniosynostosis

Lattanzi, W. (2016) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0025186 · Cited by 8 · see citing works

RECENT ADVANCES IN CRANIOSYNOSTOSIS AND FUTURE PROSPECTIVE

Barik, M., Mishra, P., & Mahapatra, A. (2017) · Indian Journal Of Applied Research