Wilkie, Andrew O.M.

Missing heritability: paternal age effect mutations and selfish spermatogonia

Goriely, A., & Wilkie, A. O. M. (2010) · Nature Reviews Genetics

Sperm and Testicular FunctionGenomics and Rare Diseases

Cited by 43

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

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

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age‐effect” syndromes

Goriely, A., Lord, H., Lim, J., Johnson, D., Lester, T., Firth, H. V., & Wilkie, A. O. M. (2010) · American Journal of Medical Genetics Part A

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