Wall, Steven A.

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

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 315

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

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 297

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

Craniofacial Disorders and TreatmentsHedgehog Signaling Pathway Studies

Cited by 276

Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis

Kan, S.-H., Elanko, N., Johnson, D., Cornejo-Roldan, L., Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, S. R. F., Rannan-Eliya, S., et al. (2002) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsConnective tissue disorders research

Cited by 265

A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1

Johnson, D., Horsley, S. W., Moloney, D. M., Oldridge, M., Twigg, S. R. F., Walsh, S., Barrow, M., Njølstad, P. R., Kunz, J., Ashworth, G. J., et al. (1998) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsGenomic variations and chromosomal abnormalities

Cited by 230

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

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 206

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

Mavrogiannis, L. A., Antonopoulou, I., Baxová, A., Kutílek, S., Kim, C. A., Sugayama, S. M., Salamanca, A., Wall, S. A., Morriss-Kay, G. M., & Wilkie, A. O. M. (2001) · Nature Genetics

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 147

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

Goriely, A., McVean, G. A. T., van Pelt, A. M. M., O'Rourke, A. W., Wall, S. A., de Rooij, D. G., & Wilkie, A. O. M. (2005) · Proceedings of the National Academy of Sciences

Sperm and Testicular FunctionGenomics and Rare Diseases

Cited by 146

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

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 140

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

Twigg, S. R. F., Matsumoto, K., Kidd, A. M. J., Goriely, A., Taylor, I. B., Fisher, R. B., Hoogeboom, A. J. M., Mathijssen, I. M. J., Lourenço, M. T., Morton, J. E. V., et al. (2006) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 103

The incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis following primary surgery

Thomas, G. P. L., Johnson, D., Byren, J. C., Judge, A. D., Jayamohan, J., Magdum, S. A., Richards, P. G., & Wall, S. A. (2015) · Journal of Neurosurgery Pediatrics

Craniofacial Disorders and TreatmentsTraumatic Brain Injury and Neurovascular Disturbances

Cited by 81

Reoperation for Intracranial Hypertension in TWIST1-Confirmed Saethre-Chotzen Syndrome: A 15-Year Review

Woods, R. H., Ul-Haq, E., Wilkie, A. O. M., Jayamohan, J., Richards, P. G., Johnson, D., Lester, T., & Wall, S. A. (2009) · Plastic and Reconstructive Surgery

Craniofacial Disorders and TreatmentsTraumatic Brain Injury and Neurovascular Disturbances

Cited by 70

Hearing loss in a mouse model of Muenke syndrome

Mansour, S. L., Twigg, S. R. F., Freeland, R. M., Wall, S. A., Li, C., & Wilkie, A. O. M. (2009) · Human Molecular Genetics

Hearing, Cochlea, Tinnitus, GeneticsCraniofacial Disorders and Treatments

Cited by 65

FGFR3 P250R Mutation Increases the Risk of Reoperation in Apparent ‘Nonsyndromic’ Coronal Craniosynostosis

Thomas, G. P. L., Wilkie, A. O. M., Richards, P. G., & Wall, S. A. (2005) · Journal of Craniofacial Surgery

Craniofacial Disorders and TreatmentsPectus Deformity Diagnosis and Treatment

Cited by 58

A survey ofTWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

Elanko, N., Sibbring, J. S., Metcalfe, K. A., Clayton-Smith, J., Donnai, D., Temple, I. K., Wall, S. A., & Wilkie, A. O. M. (2001) · Human Mutation

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 41

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

Bendon, C. L., Fenwick, A. L., Hurst, J. A., Nürnberg, G., Nürnberg, P., Wall, S. A., Wilkie, A. O., & Johnson, D. (2012) · BMC Medical Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 28

Atypical Crouzon Syndrome with a Novel Cys62Arg Mutation in FGFR2 Presenting with Sagittal Synostosis

Sharma, V. P., Wall, S. A., Lord, H., Lester, T., & Wilkie, A. O. M. (2012) · The Cleft Palate Craniofacial Journal

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 20