Manson, Forbes

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., et al. (2011) · The American Journal of Human Genetics

Corneal surgery and disordersConnective tissue disorders research

Cited by 135

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Conte, I., Hadfield, K. D., Barbato, S., Carrella, S., Pizzo, M., Bhat, R. S., Carissimo, A., Karali, M., Porter, L. F., Urquhart, J., et al. (2015) · Proceedings of the National Academy of Sciences

Retinal Development and DisordersOcular Disorders and Treatments

Cited by 115

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Rohrbach, M., Spencer, H. L., Porter, L. F., Burkitt-Wright, E. M. M., Bürer, C., Janecke, A., Bakshi, M., Sillence, D., Al-Hussain, H., Baumgartner, M., et al. (2013) · Molecular Genetics and Metabolism

Connective tissue disorders researchCorneal surgery and disorders

Cited by 83

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus

Lechner, J., Porter, L. F., Rice, A., Vitart, V., Armstrong, D. J., Schorderet, D. F., Munier, F. L., Wright, A. F., Inglehearn, C. F., Black, G. C., et al. (2014) · Human Molecular Genetics

Corneal surgery and disordersConnective tissue disorders research

Cited by 72

Computational investigation of mechanisms for pH modulation of human chloride channels

Elverson, K., Freeman, S., Manson, F., & Warwicker, J. (2022) · Molecules

Ion channel regulation and functionProtein Structure and Dynamics

Cited by 5