Twigg, Stephen R.F.

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

A Genetic-Pathophysiological Framework for Craniosynostosis

Twigg, S. R. F., & Wilkie, A. O. M. (2015) · The American Journal of Human Genetics

Craniofacial Disorders and Treatmentsdental development and anomalies

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

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

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

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

Davies, B., Brown, L. A., Cais, O., Watson, J., Clayton, A. J., Chang, V. T., Biggs, D., Preece, C., Hernandez-Pliego, P., Krohn, J., et al. (2017) · Human Molecular Genetics

Sleep and Wakefulness ResearchCircadian rhythm and melatonin

Cited by 48

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Hamilton, M. J., Caswell, R. C., Canham, N., Cole, T., Firth, H. V., Foulds, N., Heimdal, K., Hobson, E., Houge, G., Joss, S., et al. (2018) · Journal of Medical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 43