Integrated Microarray and RNAseq Transcriptomic Analysis of Retinal Pigment Epithelium/Choroid in Age-Related Macular Degeneration

מאת Dhirachaikulpanich, Dhanach, Li, Xin, Porter, Louise F., Paraoan, Luminita
הוצא לאור ב Front Cell Dev Biol (2020)

Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

מאת Porter, Louise F., Gallego-Pinazo, Roberto, Keeling, Catherine L., Kamieniorz, Martyna, Zoppi, Nicoletta, Colombi, Marina, Giunta, Cecilia, Bonshek, Richard, Manson, Forbes D., Black, Graeme C.
הוצא לאור ב Orphanet J Rare Dis (2015)

Brittle cornea syndrome: recognition, molecular diagnosis and management

מאת Burkitt Wright, Emma MM, Porter, Louise F, Spencer, Helen L, Clayton-Smith, Jill, Au, Leon, Munier, Francis L, Smithson, Sarah, Suri, Mohnish, Rohrbach, Marianne, Manson, Forbes DC, Black, Graeme CM
יצא לאור 2013

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

מאת Porter, Louise F., Galli, Giorgio G., Williamson, Sally, Selley, Julian, Knight, David, Elcioglu, Nursel, Aydin, Ali, Elcioglu, Mustafa, Venselaar, Hanka, Lund, Anders H., Bonshek, Richard, Black, Graeme C., Manson, Forbes D.
הוצא לאור ב Hum Mol Genet (2015)

Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and T...

מאת Porter, Louise F., Saptarshi, Neil, Fang, Yongxiang, Rathi, Sonika, den Hollander, Anneke I., de Jong, Eiko K., Clark, Simon J., Bishop, Paul N., Olsen, Timothy W., Liloglou, Triantafillos, Chavali, Venkata R. M., Paraoan, Luminita
הוצא לאור ב Clin Epigenetics (2019)

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

מאת Lechner, Judith, Porter, Louise F., Rice, Aine, Vitart, Veronique, Armstrong, David J., Schorderet, Daniel F., Munier, Francis L., Wright, Alan F., Inglehearn, Chris F., Black, Graeme C., Simpson, David A., Manson, Forbes, Willoughby, Colin E.
יצא לאור 2014

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

מאת Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia
יצא לאור 2013

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

מאת Conte, Ivan, Hadfield, Kristen D., Barbato, Sara, Carrella, Sabrina, Pizzo, Mariateresa, Bhat, Rajeshwari S., Carissimo, Annamaria, Karali, Marianthi, Porter, Louise F., Urquhart, Jill, Hateley, Sofie, O’Sullivan, James, Manson, Forbes D. C., Neuhauss, Stephan C. F., Banfi, Sandro, Black, Graeme C. M.
הוצא לאור ב Proc Natl Acad Sci U S A (2015)

Quantitative description of SARS‐CoV‐2 RT‐PCR, a cohort of 76 COVID‐19 older hospitalized adults

מאת Meyer, Maxence, Meyer, Anita, Calabrese, Lidia, Constancias, Florentin, Porter, Louise F., Muller, Marion, Leitner, Manon, Leitner, Amandine, Michaud, Antonin, Boussuge, Alexandre, Kaltenbach, Georges, Schmitt, Elise, Karcher, Patrick, Sauleau, Erik, Chayer, Saïd, Blanc, Frédéric, Fafi‐Kremer, Samira, Velay, Aurélie, Vogel, Thomas
הוצא לאור ב J Am Geriatr Soc (2021)

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus

מאת Khaled, Mariam Lofty, Bykhovskaya, Yelena, Gu, Chunfang, Liu, Alice, Drewry, Michelle D., Chen, Zhong, Mysona, Barbara A., Parker, Emily, McNabb, Ryan P., Yu, Hongfang, Lu, Xiaowen, Wang, Jing, Li, Xiaohui, Al-Muammar, Abdulrahman, Rotter, Jerome I., Porter, Louise F., Estes, Amy, Watsky, Mitchell A., Smith, Sylvia B., Xu, Hongyan, Abu-Amero, Khaled K., Kuo, Anthony, Shears, Stephen B., Rabinowitz, Yaron S., Liu, Yutao
הוצא לאור ב Sci Rep (2019)