Wilkie, Andrew O.M.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Craniosynostosis

Johnson, D., & Wilkie, A. O. M. (2011) · European Journal of Human Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 499

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

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 483

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

Sperm and Testicular FunctionGenomics and Rare Diseases

Cited by 365

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

Fgfr1 and Fgfr2 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

Craniofacial Disorders and TreatmentsBone Metabolism and Diseases

Cited by 305

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

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

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

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Goriely, A., Hansen, R. M. S., Taylor, I. B., Olesen, I. A., Jacobsen, G. K., McGowan, S. J., Pfeifer, S. P., McVean, G. A. T., Meyts, E. R.-D., & Wilkie, A. O. M. (2009) · Nature Genetics

Testicular diseases and treatmentsSperm and Testicular Function

Cited by 205

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

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Maher, G. J., Ralph, H. K., Ding, Z., Koelling, N., Mlcochova, H., Giannoulatou, E., Dhami, P., Paul, D. S., Stricker, S. H., Beck, S., et al. (2018) · Genome Research

Sperm and Testicular FunctionGenomics and Rare Diseases

Cited by 85

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

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

Bochukova, E. G., Roscioli, T., Hedges, D. J., Taylor, I. B., Johnson, D., David, D. J., Deininger, P. L., & Wilkie, A. O. M. (2009) · Human Mutation

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 66

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

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes

Maher, G. J., McGowan, S. J., Giannoulatou, E., Verrill, C., Goriely, A., & Wilkie, A. O. M. (2016) · Proceedings of the National Academy of Sciences

Sperm and Testicular FunctionCancer Genomics and Diagnostics

Cited by 59

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