Genetic advances in craniosynostosis

Targeted Disruption of Results in a Complete Lack of Bone Formation owing to Maturational Arrest of Osteoblasts

Komori, T., Yagi, H., Nomura, S., Yamaguchi, A., Sasaki, K., Deguchi, K., Shimizu, Y., Bronson, R. T., Gao, Y.-H., Inada, M., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80258-5 · Cited by 4,244 · see citing works

The Novel Zinc Finger-Containing Transcription Factor Osterix Is Required for Osteoblast Differentiation and Bone Formation

Nakashima, K., Zhou, X., Kunkel, G., Zhang, Z., Deng, J. M., Behringer, R. R., & de Crombrugghe, B. (2002) · Cell · doi:10.1016/s0092-8674(01)00622-5 · Cited by 3,608 · see citing works

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882 · see citing works

Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006

Parker, S. E., Mai, C. T., Canfield, M. A., Rickard, R., Wang, Y., Meyer, R. E., Anderson, P., Mason, C. A., Collins, J. S., Kirby, R. S., et al. (2010) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20735 · Cited by 1,887 · see citing works

HedgehogandBmpGenes Are Coexpressed at Many Diverse Sites of Cell–Cell Interaction in the Mouse Embryo

Bitgood, M. J., & McMahon, A. P. (1995) · Developmental Biology · doi:10.1006/dbio.1995.0010 · Cited by 1,370 · see citing works

MLL Targets SET Domain Methyltransferase Activity to Hox Gene Promoters

Milne, T. A., Briggs, S. D., Brock, H. W., Martin, M. E., Gibbs, D. Y., Allis, C. D., & Hess, J. L. (2002) · Molecular Cell · doi:10.1016/s1097-2765(02)00741-4 · Cited by 1,051 · see citing works

The triple origin of skull in higher vertebrates: a study in quail-chick chimeras

Couly, G. F., Coltey, P. M., & Douarin, N. M. L. (1993) · Development · doi:10.1242/dev.117.2.409 · Cited by 1,032 · 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

The role of the neural crest in patterning of avian cranial skeletal, connective, and muscle tissues

Noden, D. M. (1983) · Developmental Biology · doi:10.1016/0012-1606(83)90318-4 · Cited by 878 · see citing works

Altered Hox expression and segmental identity in Mll-mutant mice

Yu, B., Hess, J. L., Horning, S. E., Brown, G. A. J., & Korsmeyer, S. J. (1995) · Nature · doi:10.1038/378505a0 · Cited by 872 · see citing works

Syndromes of the Head and Neck

Gorlin, R. J., Cohen, M. M., & Hennekam, R. C. M. (2001) · doi:10.1093/oso/9780195118612.001.0001 · Cited by 845 · 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

ALL-1 Is a Histone Methyltransferase that Assembles a Supercomplex of Proteins Involved in Transcriptional Regulation

Nakamura, T., Mori, T., Tada, S., Krajewski, W. A., Rozovskaia, T., Wassell, R. P., DuBois, G. C., Mazo, A., Croce, C. M., & Canaani, E. (2002) · Molecular Cell · doi:10.1016/s1097-2765(02)00740-2 · Cited by 720 · see citing works

The Prevalence of Congenital Anomalies in Europe

Dolk, H. M., Loane, M. A., & Garne, E. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-90-481-9485-8_20 · Cited by 693 · 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

Molecular origins of rapid and continuous morphological evolution

Fondon, J. W., & Garner, H. R. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0408118101 · Cited by 614 · 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

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 2× · 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

Use of Selective Serotonin-Reuptake Inhibitors in Pregnancy and the Risk of Birth Defects

Alwan, S., Reefhuis, J., Rasmussen, S. A., Olney, R. S., & Friedman, J. M. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa066584 · Cited by 495 · 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

The developmental fate of the cephalic mesoderm in quail-chick chimeras

Couly, G. F., Coltey, P. M., & Douarin, N. M. L. (1992) · Development · doi:10.1242/dev.114.1.1 · Cited by 448 · see citing works

Interaction and Functional Cooperation of PEBP2/CBF with Smads

Hanai, J.-I., Chen, L. F., Kanno, T., Ohtani‐Fujita, N., Kim, W. Y., Guo, W.-H., Imamura, T., Ishidou, Y., Fukuchi, M., Shi, M.-J., et al. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.44.31577 · Cited by 445 · see citing works

The impact of orofacial clefts on quality of life and healthcare use and costs

Wehby, G., & Cassell, C. (2009) · Oral Diseases · doi:10.1111/j.1601-0825.2009.01588.x · Cited by 442 · see citing works

Eph Receptor Signaling and EphrinsPreprint

Lisabeth, E. M., Falivelli, G., & Pasquale, E. B. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009159 · Cited by 420 · see citing works

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Muenke, 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 384 · see citing works

Fibroblast Growth Factor 2 Induction of the Osteocalcin Gene Requires MAPK Activity and Phosphorylation of the Osteoblast Transcription Factor, Cbfa1/Runx2

Xiao, G., Jiang, D., Gopalakrishnan, R., & Franceschi, R. T. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m206057200 · Cited by 379 · 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

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

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

Endoscopic craniectomy for early surgical correction of sagittal craniosynostosis

Jimenez, D. F., & Barone, C. M. (1998) · Journal of Neurosurgery · doi:10.3171/jns.1998.88.1.0077 · Cited by 364 · see citing works

The role of Axin2 in calvarial morphogenesis and craniosynostosis

Yu, H. I., Jerchow, B., Sheu, T., Liu, B., Costantini, F. D., Puzas, J. E., Birchmeier, W., & Hsu, W. (2005) · Development · doi:10.1242/dev.01786 · Cited by 355 · 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

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

Huang, N., Pandey, A. V., Agrawal, V., Reardon, W., Lapunzina, P. D., Mowat, D., Jabs, E. W., Vliet, G. V., Sack, J., Flück, C. E., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/429417 · Cited by 336 · see citing works

The new bone biology: Pathologic, molecular, and clinical correlates

Cohen, M. M. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31368 · Cited by 332 · see citing works

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Wilkie, A. O. M., Tang, Z., Elanko, N., Walsh, S., Twigg, S. R. F., Hurst, J. A., Wall, S. A., Chrzanowska, K. H., & Maxson, R. E. (2000) · Nature Genetics · doi:10.1038/74224 · Cited by 315 · see citing works

The BMP antagonist noggin regulates cranial suture fusion

Warren, S. M., Brunet, L. J., Harland, R. M., Economides, A. N., & Longaker, M. T. (2003) · Nature · doi:10.1038/nature01545 · Cited by 303 · 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

Neurodevelopment of children with single suture craniosynostosis: a review

Kapp‐Simon, K. A., Speltz, M. L., Cunningham, M. L., Patel, P. K., & Tomita, T. (2006) · Child s Nervous System · doi:10.1007/s00381-006-0251-z · Cited by 290 · see citing works

A Genetic-Pathophysiological Framework for Craniosynostosis

Twigg, S. R. F., & Wilkie, A. O. M. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.07.006 · Cited by 276 · 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

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

Intracranial pressure monitoring in children with single suture and complex craniosynostosis: a review

Tamburrini, G., Caldarelli, M., Massimi, L., Santini, P., & Di Rocco, C. (2005) · Child's Nervous System · doi:10.1007/s00381-004-1117-x · Cited by 261 · see citing works

Stem cells of the suture mesenchyme in craniofacial bone development, repair and regeneration

Maruyama, T., Jeong, J., Sheu, T., & Hsu, W. (2016) · Nature Communications · doi:10.1038/ncomms10526 · Cited by 261 · see citing works

Evolution in the frequency of nonsyndromic craniosynostosis: Clinical article

Di Rocco, F., Arnaud, E., & Renier, D. (2009) · Journal of Neurosurgery: Pediatrics · doi:10.3171/2009.3.peds08355 · Cited by 253 · see citing works

Maternal age and non‐chromosomal birth defects, Atlanta—1968–2000: Teenager or thirty‐something, who is at risk?

Reefhuis, J., & Honein, M. A. (2004) · Birth Defects Research Part A: Clinical and Molecular Teratology · doi:10.1002/bdra.20065 · Cited by 253 · see citing works

Linkage of Osteoporosis to Chromosome 20p12 and Association to BMP2

Styrkarsdottir, U., Cazier, J.-B., Kong, A., Rolfsson, O., Larsen, H., Bjarnadottir, E., Johannsdottir, V. D., Sigurdardottir, M. S., Bagger, Y., Christiansen, C., et al. (2003) · PLoS Biology · doi:10.1371/journal.pbio.0000069 · 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

Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers

Attanasio, C., Nord, A. S., Zhu, Y., Blow, M. J., Li, Z., Liberton, D. K., Morrison, H., Plajzer-Frick, I., Holt, A., Hosseini, R., et al. (2013) · Science · doi:10.1126/science.1241006 · Cited by 237 · see citing works

Sox2 induction by FGF and FGFR2 activating mutations inhibits Wnt signaling and osteoblast differentiation

Mansukhani, A., Ambrosetti, D. C., Holmes, G., Cornivelli, L., & Basilico, C. (2005) · The Journal of Cell Biology · doi:10.1083/jcb.200409182 · Cited by 235 · see citing works

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 · 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

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

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 · see citing works

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 · see citing works

Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood

Wang, X., O'Connell, D. J., Lund, J. J., Saadi, I., Kuraguchi, M., Turbé-Doan, A., Cavallesco, R., Kim, H., Park, P. J., Harada, H., et al. (2009) · Development · doi:10.1242/dev.033803 · Cited by 213 · see citing works

Genetics of Craniosynostosis

Kimonis, V. E., Gold, J., Hoffman, T. L., Panchal, J., & Boyadjiev, S. A. (2007) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2007.08.008 · Cited by 206 · 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

Msx2Gene Dosage Influences the Number of Proliferative Osteogenic Cells in Growth Centers of the Developing Murine Skull: A Possible Mechanism forMSX2-Mediated Craniosynostosis in Humans

Liu, Y., Tang, Z., Kundu, R. K., Wu, L., Luo, W., Zhu, D., Sangiorgi, F. O., Snead, M. L., & Maxson, R. E. (1999) · Developmental Biology · doi:10.1006/dbio.1998.9114 · Cited by 201 · 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

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

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

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

Variation of BMP3 Contributes to Dog Breed Skull Diversity

Schoenebeck, J. J., Hutchinson, S. A., Byers, A., Beale, H. C., Carrington, B., Faden, D. L., Rimbault, M., Decker, B. J., Kidd, J. M., Sood, R. B., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002849 · Cited by 185 · see citing works

Msx2andTwistcooperatively control the development of the neural crest-derived skeletogenic mesenchyme of the murine skull vault

Ishii, M., Merrill, A. E., Chan, Y.-S., Gitelman, I., Rice, D. P. C., Sucov, H. M., & Maxson, R. E. (2003) · Development · doi:10.1242/dev.00793 · Cited by 182 · 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

Lifetime Prevalence of Learning Disability Among US Children

Altarac, M., & Saroha, E. (2007) · PEDIATRICS · doi:10.1542/peds.2006-2089l · Cited by 178 · 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

Craniosynostosis. Diagnosis, evaluation and management.

REARDON, W. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.9.727 · Cited by 170 · see citing works

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

Swinkels, M. E. M., Simons, A., Smeets, D., Vissers, L. E. L. M., Veltman, J. A., Pfundt, R., Vries, B. B. A. D., Faas, B. H. W., Schrander-Stumpel, C. T. R. M., McCann, E., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32310 · Cited by 170 · see citing works

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 · see citing works

The Wnt-inducible Transcription Factor Twist1 Inhibits Chondrogenesis

Reinhold, M. I., Kapadia, R. M., Liao, Z., & Naski, M. C. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m504875200 · Cited by 165 · see citing works

Contribution of birth defects to infant mortality in the United States

Petrini, J. R., Damus, K. H., Russell, R., Poschman, K., Davidoff, M. J., & Mattison, D. R. (2002) · Teratology · doi:10.1002/tera.90002 · Cited by 164 · 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

New insights into craniofacial malformations

Twigg, S. R. F., & Wilkie, A. O. M. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv228 · Cited by 164 · see citing works

Genetics of Craniosynostosis: Genes, Syndromes, Mutations and Genotype-Phenotype Correlations

Passos‐Bueno, M. R., Sertie, A. L., Jehee, F. S., Fanganiello, R. D., & Yeh, E. (2008) · Frontiers of oral physiology/Frontiers of oral biology · doi:10.1159/000115035 · Cited by 163 · see citing works

Metopic synostosis

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Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

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Personalized Bone Reconstruction and Regeneration in the Treatment of Craniosynostosis

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The Influence of Epigenetic Factors in Four Pairs of Twins With Non-Syndromic Craniosynostosis

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Shaping modern human skull through epigenetic, transcriptional and post-transcriptional regulation of the RUNX2 master bone gene

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Endoscopic Strip Craniectomy and Helmet Therapy for Sagittal Craniosynostosis: An Analysis of Cranial Growth Changes in the Early Postoperative Period

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Candidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms – a narrative review

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Single-suture craniosynostosis and the epigenome: current evidence and a review of epigenetic principles

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Clinical staging of craniosynostosis: a call for investigation and collaboration

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Regulation of mesenchymal stem cell differentiation by key cell signaling pathways

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Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients

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Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis

Justice, C. M., Musolf, A. M., Cuellar, A., Lattanzi, W., Simeonov, E., Kaneva, R. P., Paschall, J. E., Cunningham, M. L., Wilkie, A. O. M., Wilson, A. F., et al. (2022) · Genes · doi:10.3390/genes13050816 · Cited by 7 · see citing works

Schizophrenia and human self-domestication: an evolutionary linguistics approachPreprint

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Systematic Review of Nonsyndromic Craniosynostosis: Genomic Alterations and Impacted Signaling Pathways

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Compound craniosynostosis, intellectual disability, and Noonan‐like facial dysmorphism associated with 7q32.3‐q35 deletion

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Surgical Complications After Fronto-orbital Advancement for Craniosynostosis: Analysis of a National Database

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Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4

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Neurosurgical aspects of Noonan syndrome

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Quantitative Morphologic Analysis of Cranial Vault in Twist1 +/− Mice: Implications in Craniosynostosis

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Diploic vein morphology in normal and craniosynostotic adult human skulls

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Craniovascular traits and braincase morphology in craniosynostotic human skulls

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Imaging Modalities in Craniosynostosis: A Systematic Review and Proposal of the ARCANA Protocol for Multimodal Radiation-Free Assessment

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Neuroimaging in Nonsyndromic Craniosynostosis: Key Concepts to Unlock Innovation

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A head start: The relationship of placental factors to craniofacial and brain development

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Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis

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TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

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Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428

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Ontology of Variants of Cranial Structure and Malformations. Part I

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The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis

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Advanced parental age: Is it contributing to an increased incidence of non-syndromic craniosynostosis? A review of case-control studies

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FGFR antagonists restore defective mandibular bone repair in a mouse model of osteochondrodysplasia

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Current Understanding of Crouzon Syndrome Pathophysiology and New Therapeutic Approaches

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Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report

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Teorías del crecimiento craneofacial: una revisión de literatura

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Possibilities of the ultrasonography in the diagnosis of craniosynostosis in children of the first year of life

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A smart nanocomposite bioactive ink for controlled siRNA delivery in calvarial mesenchymal stromal cells as a minimally invasive treatment for craniosynostosis

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Delayed Presentation of Sagittal Suture Craniosynostosis

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Développement et croissance de la base du crâne

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Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

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A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra

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Craniofacial Syndromes

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Craniosynostosis: Epidemiology and Pattern at a Tertiary Referral Institute in Oman 2004 to 2023

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Surgical strategy in treatment of metopic synostosis in a single centre experience: technical note and quantitative analysis of the outcomes

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EMBRYOLOGICAL PREREQUISITES FOR HUMAN CRANIAL DEVELOPMENTAL DEFFECTS

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A higher proportion of craniosynostosis genes are cancer driver genes

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Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver

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Genetics versus environment in the pathophysiology of sagittal synostosis

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Dynamic contrast-enhanced magnetic resonance perfusion of the brain in children with craniosynostosis

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Functional analyses of splice site variants in TCF12

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Virtual Surgical Planning in Craniofacial Surgery

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Prescription Drug Exposures During Pregnancy and Risk of Nonsyndromic Craniosynostosis

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Imaging in patients with craniosynostosis

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Surgery for Craniosynostosis

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From head shape to diagnosis: Craniosynostosis for the pediatric neurologist

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Endoscopic surgery for craniosynostosis: How did we get here and where are we going?

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Craneosinostosis: revisión de la literatura

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Form and Function of Tissues which Undergo Mineralization

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Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis

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Genetics of Craniosynostoses: What Is Important for the Neurosurgeon?

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Diagnosis and Treatment of Craniosynostosis : Current Status and Problems

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Placenta, Abnormal Conception, and Prematurity

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Craniosynostosis: Genetic Basis, Genes, Chromosomes, and Resulting Syndromes

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Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses

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Genetics of Craniosynostoses: What Is Important for the Neurosurgeon?

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Genetic bases of craniosynostoses: An update

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