Goriely, Anne

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

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

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

Advanced paternal age effects in neurodevelopmental disorders—review of potential underlying mechanisms

Janecka, M., Mill, J., Basson, M. A., Goriely, A., Spiers, H., Reichenberg, A., Schalkwyk, L., & Fernandes, C. (2017) · Translational Psychiatry

Autism Spectrum Disorder ResearchSperm and Testicular Function

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

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

Lower, K. M., Hughes, J. R., De Gobbi, M., Henderson, S., Viprakasit, V., Fisher, C., Goriely, A., Ayyub, H., Sloane-Stanley, J., Vernimmen, D., et al. (2009) · Proceedings of the National Academy of Sciences

Genomics and Chromatin DynamicsHemoglobinopathies and Related Disorders

Cited by 92

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

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

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

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