2021
Saptarshi, N., Green, D., Cree, A., Lotery, A., Paraoan, L., & Porter, L. F. (2021). Epigenetic Age Acceleration Is Not Associated with Age-Related Macular Degeneration. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22(24). doi:10.3390/ijms222413457DOI: 10.3390/ijms222413457
Presence of active myocarditis at the 6 month follow-up appointment for a severe form of COVID-19: a case report (Journal article)
Meyer, M., Vogel, T., Meyer, A., Constancias, F., Porter, L. F., Kaltenbach, G., . . . El Ghannudi, S. (2021). Presence of active myocarditis at the 6 month follow-up appointment for a severe form of COVID-19: a case report. ESC HEART FAILURE, 8(5), 4307-4312. doi:10.1002/ehf2.13461DOI: 10.1002/ehf2.13461
Clinical and Virological Follow-Up of a Cohort of 76 COVID-19 Older Hospitalized Adults (Journal article)
Meyer, M., Calabrese, L., Meyer, A., Constancias, F., Porter, L. F., Muller, M., . . . Vogel, T. (2021). Clinical and Virological Follow-Up of a Cohort of 76 COVID-19 Older Hospitalized Adults. JOURNAL OF THE AMERICAN GERIATRICS SOCIETY, 69(5), 1167-1170. doi:10.1111/jgs.17023DOI: 10.1111/jgs.17023
Quantitative description of SARS-CoV-2 RT-PCR, a cohort of 76 COVID-19 older hospitalized adults (Journal article)
Meyer, M., Meyer, A., Calabrese, L., Constancias, F., Porter, L. F., Muller, M., . . . Vogel, T. (2021). Quantitative description of SARS-CoV-2 RT-PCR, a cohort of 76 COVID-19 older hospitalized adults. JOURNAL OF THE AMERICAN GERIATRICS SOCIETY, 69(5), 1170-1174. doi:10.1111/jgs.17102DOI: 10.1111/jgs.17102
2020
Mauring, L., Porter, L. F., Pelletier, V., Riehm, A., Leuvrey, A. -S., Gouronc, A., . . . Muller, J. (n.d.). Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation. Frontiers in Genetics, 11. doi:10.3389/fgene.2020.00938DOI: 10.3389/fgene.2020.00938
Dhirachaikulpanich, D., Li, X., Porter, L. F., & Paraoan, L. (n.d.). Integrated Microarray and RNAseq Transcriptomic Analysis of Retinal Pigment Epithelium/Choroid in Age-Related Macular Degeneration. Frontiers in Cell and Developmental Biology, 8. doi:10.3389/fcell.2020.00808DOI: 10.3389/fcell.2020.00808
Skalicka, P., Porter, L. F., Brejchova, K., Malinka, F., Dudakova, L., & Liskova, P. (2020). Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years. BIOMEDICAL PAPERS-OLOMOUC, 164(2), 183-188. doi:10.5507/bp.2019.017DOI: 10.5507/bp.2019.017
2019
Khaled, M. L., Bykhovskaya, Y., Gu, C., Liu, A., Drewry, M. D., Chen, Z., . . . Liu, Y. (2019). PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. SCIENTIFIC REPORTS, 9. doi:10.1038/s41598-019-55866-5DOI: 10.1038/s41598-019-55866-5
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/s13148-019-0608-2DOI: 10.1186/s13148-019-0608-2
2017
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.2017.05.029DOI: 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/ddv345DOI: 10.1093/hmg/ddv345
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/s13023-015-0360-4DOI: 10.1186/s13023-015-0360-4
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.1401464112DOI: 10.1073/pnas.1401464112
2014
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/ddu253DOI: 10.1093/hmg/ddu253
Personalized ophthalmology (Journal article)
Porter, L. F., & Black, G. C. M. (2014). Personalized ophthalmology. CLINICAL GENETICS, 86(1), 1-11. doi:10.1111/cge.12389DOI: 10.1111/cge.12389
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.2013.04.014DOI: 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:10.1186/1750-1172-8-68DOI: 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.10-6581DOI: 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.0028582DOI: 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.2010.05.004DOI: 10.1016/j.jhin.2010.05.004
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.s12027DOI: 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.2008.10.005DOI: 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.2005.074195DOI: 10.1136/bjo.2005.074195
