Ophthalmic Manifestations of Vitamin A and D Deficiency in Two Autistic Teenagers: Case Reports and a Review of the Literature

por Duignan, Emma, Kenna, Paul, Watson, Rosemarie, Fitzsimon, Susan, Brosnahan, Donal
Publicado 2015

Persistent pseudomyopia following a whiplash injury in a previously emmetropic woman

por Hughes, Fintan E., Treacy, Maxwell P., Duignan, Emma S., Mullaney, Paul B.
Publicado 2017

A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration

por Carrigan, Matthew, Duignan, Emma, Humphries, Pete, Palfi, Arpad, Kenna, Paul F, Farrar, G Jane
Publicado 2016

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

por Ba-Abbad, Rola, Robson, Anthony G., Mahroo, Omar A., Wright, Genevieve, Schiff, Elena, Duignan, Emma S., Michaelides, Michel, Arno, Gavin, Webster, Andrew R.
Publicado 2020

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

por Carrigan, Matthew, Duignan, Emma, Malone, Conor P. G., Stephenson, Kirk, Saad, Tahira, McDermott, Ciara, Green, Andrew, Keegan, David, Humphries, Peter, Kenna, Paul F., Farrar, G. Jane
Publicado 2016

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

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

por Fadaie, Zeinab, Whelan, Laura, Ben-Yosef, Tamar, Dockery, Adrian, Corradi, Zelia, Gilissen, Christian, Haer-Wigman, Lonneke, Corominas, Jordi, Astuti, Galuh D. N., de Rooij, Laura, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Hoyng, Carel B., Wynne, Niamh, Duignan, Emma S., Kenna, Paul F., Cremers, Frans P. M., Farrar, G. Jane, Roosing, Susanne
Publicado 2021