A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics

por Stephenson, Kirk A. J., Dockery, Adrian, O’Keefe, Michael, Green, Andrew, Farrar, G. Jane, Keegan, David J.
Publicado 2019

Preparation of Pre-Confluent Retinal Cells Increases Graft Viability In Vitro and In Vivo: A Mouse Model

por Kennelly, Kevin P., Wallace, Deborah M., Holmes, Toby M., Hankey, Deborah J., Grant, Timothy S., O'Farrelly, Cliona, Keegan, David J.
Publicado 2011

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing

por Stephenson, Kirk A. J., Zhu, Julia, Dockery, Adrian, Whelan, Laura, Burke, Tomás, Turner, Jacqueline, O’Byrne, James J., Farrar, G. Jane, Keegan, David J.
Publicado 2022

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

por Zhu, Julia, Stephenson, Kirk A. J., Dockery, Adrian, Turner, Jacqueline, O’Byrne, James J., Fitzsimon, Susan, Farrar, G. Jane, Flitcroft, D. Ian, Keegan, David J.
Publicado 2022

Factors associated with non-attendance in the Irish national diabetic retinopathy screening programme (INDEAR study report no. 2)

por Kelly, Stephen R., Loiselle, Allison R., Pandey, Rajiv, Combes, Andrew, Murphy, Colette, Kavanagh, Helen, Fitzpatrick, Patricia, Mooney, Therese, Kearney, Patricia, Crabb, David P., Keegan, David J.
Publicado 2021

Irish National Diabetic RetinaScreen Programme: report on five rounds of retinopathy screening and screen-positive referrals. (INDEAR study report no. 1)

por Pandey, Rajiv, Morgan, Margaret M, Murphy, Colette, Kavanagh, Helen, Acheson, Robert, Cahill, Mark, McGettrick, Patricia, O’Toole, Louise, Hamroush, Fatima, Mooney, Therese, Byrne, Helen, Fitzpatrick, Patricia, Keegan, David J
Publicado 2022

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

por Stephenson, Kirk A. J., Whelan, Laura, Zhu, Julia, Dockery, Adrian, Wynne, Niamh C., Cairns, Rebecca M., Kirk, Claire, Turner, Jacqueline, Duignan, Emma S., O'Byrne, James J., Silvestri, Giuliana, Kenna, Paul F., Farrar, G. Jane, Keegan, David J.
Publicado 2023

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

por Whelan, Laura, Dockery, Adrian, Stephenson, Kirk A. J., Zhu, Julia, Kopčić, Ella, Post, Iris J. M., Khan, Mubeen, Corradi, Zelia, Wynne, Niamh, O’ Byrne, James J., Duignan, Emma, Silvestri, Giuliana, Roosing, Susanne, Cremers, Frans P. M., Keegan, David J., Kenna, Paul F., Farrar, G. Jane
Publicado 2023

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

por Stephenson, Kirk A. J., Zhu, Julia, Wynne, Niamh, Dockery, Adrian, Cairns, Rebecca M., Duignan, Emma, Whelan, Laura, Malone, Conor P., Dempsey, Hilary, Collins, Karen, Routledge, Shana, Pandey, Rajiv, Crossan, Elaine, Turner, Jacqueline, O’Byrne, James J., Brady, Laura, Silvestri, Giuliana, Kenna, Paul F., Farrar, G. Jane, Keegan, David J.
Publicado 2021

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

por Velde, Hedwig M., Reurink, Janine, Held, Sebastian, Li, Catherina H. Z., Yzer, Suzanne, Oostrik, Jaap, Weeda, Jack, Haer-Wigman, Lonneke, Yntema, Helger G., Roosing, Susanne, Pauleikhoff, Laurenz, Lange, Clemens, Whelan, Laura, Dockery, Adrian, Zhu, Julia, Keegan, David J., Farrar, G. Jane, Kremer, Hannie, Lanting, Cornelis P., Damme, Markus, Pennings, Ronald J. E.
Publicado 2022