Dr Louise Porter

Eye and Vision Science

Publications

2019

Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years. (Journal article)

Skalicka, P., Porter, L. F., Brejchova, K., Malinka, F., Dudakova, L., & Liskova, P. (2019). Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.. Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia. doi:10.5507/bp.2019.017

DOI: 10.5507/bp.2019.017

Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes. (Journal article)

Porter, L. F., Saptarshi, N., Fang, Y., Rathi, S., den Hollander, A. I., de Jong, E. K., . . . Paraoan, L. (2019). Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.. Clinical epigenetics, 11(1), 6. doi:10.1186/s13148-019-0608-2

DOI: 10.1186/s13148-019-0608-2

2017

Pseudophakic cystoid macular edema and spectral-domain optical coherence tomography-detectable central macular thickness changes with perioperative prostaglandin analogs (Journal article)

Walkden, A., Porter, L. F., Morarji, J., Kelly, S. P., & Sioras, E. (2017). Pseudophakic cystoid macular edema and spectral-domain optical coherence tomography-detectable central macular thickness changes with perioperative prostaglandin analogs. JOURNAL OF CATARACT AND REFRACTIVE SURGERY, 43(8), 1027-1030. doi:10.1016/j.jcrs.2017.05.029

DOI: 10.1016/j.jcrs.2017.05.029

2015

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome (Journal article)

Porter, L. F., Galli, G. G., Williamson, S., Selley, J., Knight, D., Elcioglu, N., . . . Manson, F. D. (2015). A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome. HUMAN MOLECULAR GENETICS, 24(23), 6565-6579. doi:10.1093/hmg/ddv345

DOI: 10.1093/hmg/ddv345

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma (Journal article)

Conte, I., Hadfield, K. D., Barbato, S., Carrella, S., Pizzo, M., Bhat, R. S., . . . Black, G. C. M. (2015). MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 112(25), E3236-E3245. doi:10.1073/pnas.1401464112

DOI: 10.1073/pnas.1401464112

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome (Journal article)

Porter, L. F., Gallego-Pinazo, R., Keeling, C. L., Kamieniorz, M., Zoppi, N., Colombi, M., . . . Black, G. C. (2015). Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. ORPHANET JOURNAL OF RARE DISEASES, 10. doi:10.1186/s13023-015-0360-4

DOI: 10.1186/s13023-015-0360-4

2014

Personalized ophthalmology (Journal article)

Porter, L. F., & Black, G. C. M. (2014). Personalized ophthalmology. CLINICAL GENETICS, 86(1), 1-11. doi:10.1111/cge.12389

DOI: 10.1111/cge.12389

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus (Journal article)

Lechner, J., Porter, L. F., Rice, A., Vitart, V., Armstrong, D. J., Schorderet, D. F., . . . Willoughby, C. E. (2014). Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. HUMAN MOLECULAR GENETICS, 23(20), 5527-5535. doi:10.1093/hmg/ddu253

DOI: 10.1093/hmg/ddu253

2013

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

Rohrbach, M., Spencer, H. L., Porter, L. F., Burkitt-Wright, E. M. M., Buerer, C., Janecke, A., . . . Giunta, C. (2013). ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. MOLECULAR GENETICS AND METABOLISM, 109(3), 289-295. doi:10.1016/j.ymgme.2013.04.014

DOI: 10.1016/j.ymgme.2013.04.014

Brittle cornea syndrome: recognition, molecular diagnosis and management (Journal article)

Wright, E. M. M. B., Porter, L. F., Spencer, H. L., Clayton-Smith, J., Au, L., Munier, F. L., . . . Black, G. C. M. (2013). Brittle cornea syndrome: recognition, molecular diagnosis and management. ORPHANET JOURNAL OF RARE DISEASES, 8. doi:10.1186/1750-1172-8-68

DOI: 10.1186/1750-1172-8-68

2012

Royal College of Surgeons in Ireland. (Journal article)

Royal College of Surgeons in Ireland. (2012). The Ulster Medical Journal, 81(3), 163-170.

2011

Identification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2 (Journal article)

Porter, L. F., Urquhart, J. E., O'Donoghue, E., Spencer, A. F., Wade, E. M., Manson, F. D. C., & Black, G. C. M. (2011). Identification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 52(11), 7859-7865. doi:10.1167/iovs.10-6581

DOI: 10.1167/iovs.10-6581

Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy (Journal article)

Liao, H., Irvine, A. D., MacEwen, C. J., Weed, K. H., Porter, L., Corden, L. D., . . . Moore, C. B. T. (2011). Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy. PLOS ONE, 6(12). doi:10.1371/journal.pone.0028582

DOI: 10.1371/journal.pone.0028582

2010

Unintended consequences and MRSA screening policy (Journal article)

Porter, L. F., Khan, R. U., & Kelly, S. P. (2010). Unintended consequences and MRSA screening policy. JOURNAL OF HOSPITAL INFECTION, 76(3), 275. doi:10.1016/j.jhin.2010.05.004

DOI: 10.1016/j.jhin.2010.05.004

MRSA and cataract surgery - reflections for practice. (Journal article)

Porter, L. F., Khan, R. U., Hannan, A., & Kelly, S. P. (2010). MRSA and cataract surgery - reflections for practice.. Clinical Ophthalmology (Auckland, N.Z.), 4, 1223-1227. doi:10.2147/OPTH.S12027

DOI: 10.2147/OPTH.S12027

Predicting mortality using two renal function estimation methods in hospitalised stroke patients (Journal article)

Porter, L. F., Witham, M. D., Fraser, C. G., & MacWalter, R. S. (2010). Predicting mortality using two renal function estimation methods in hospitalised stroke patients. INTERNATIONAL JOURNAL OF CARDIOLOGY, 139(3), 307-309. doi:10.1016/j.ijcard.2008.10.005

DOI: 10.1016/j.ijcard.2008.10.005

2005

Total parenteral nutrition, vitamin E, and reversible macular dysfunction morphologically mimicking age related macular degeneration (Journal article)

Porter, L., Reynolds, N., & Ellis, J. D. (2005). Total parenteral nutrition, vitamin E, and reversible macular dysfunction morphologically mimicking age related macular degeneration. BRITISH JOURNAL OF OPHTHALMOLOGY, 89(11), 1531-1532. doi:10.1136/bjo.2005.074195

DOI: 10.1136/bjo.2005.074195