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 <i>ZNF469</i> 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). <i>PPIP5K2</i> and <i>PCSK1</i> 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, <i>ZNF469</i>, 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, <i>ZNF469</i>, 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
<i>ZNF469</i> 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). <i>ZNF469</i> 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