Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

por Stepien, Karolina M., McCarthy, Philomena, Treacy, Eileen P., O'Byrne, James J., Pastores, Gregory M.
Publicado 2018

The genetic and biochemical basis of trimethylaminuria in an Irish cohort

por Doyle, Samantha, O'Byrne, James J., Nesbitt, Mandy, Murphy, Daniel N., Abidin, Zaza, Byrne, Niall, Pastores, Gregory, Kirk, Richard, Treacy, Eileen P.
Publicado 2019

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

MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report

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

Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency

por Shakerdi, Loai A., McNulty, Jenny, Gillman, Barbara, McCarthy, Claire M., Ivory, Jessica, Sheerin, Alison, O'Byrne, James J., Donnelly, Jennifer C., Treacy, Eileen P.
Publicado 2022

Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction

por Maloney, Daniel M., Chadderton, Naomi, Millington-Ward, Sophia, Palfi, Arpad, Shortall, Ciara, O’Byrne, James J., Cassidy, Lorraine, Keegan, David, Humphries, Peter, Kenna, Paul, Farrar, Gwyneth Jane
Publicado 2020

Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland

por Whelan, Laura, Dockery, Adrian, Wynne, Niamh, Zhu, Julia, Stephenson, Kirk, Silvestri, Giuliana, Turner, Jacqueline, O’Byrne, James J., Carrigan, Matthew, Humphries, Peter, Keegan, David, Kenna, Paul F., Farrar, G. Jane
Publicado 2020

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

The future of genomics in Ireland – focus on genomics for health

por Seoighe, Cathal, Bracken, Adrian P., Buckley, Patrick, Doran, Peter, Green, Robert, Healy, Sandra, Kavanagh, David, Kenny, Elaine, Lawler, Mark, Lowery, Maeve, Morris, Derek, Morrissey, Darrin, O'Byrne, James J., Shields, Denis, Smith, Owen, Steward, Charles A., Sweeney, Brian, Kolch, Walter
Publicado 2020

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

The genotypic and phenotypic spectrum of MTO1 deficiency

por O'Byrne, James J., Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K., Freisinger, Peter, Garber, Ian, Haack, Tobias B., Horvath, Rita, Barić, Ivo, Husain, Ralf A., Kluijtmans, Leo A.J., Kotzaeridou, Urania, Morris, Andrew A., Ross, Colin J., Santra, Saikat, Smeitink, Jan, Tarnopolsky, Mark, Wortmann, Saskia B., Mayr, Johannes A., Brunner-Krainz, Michaela, Prokisch, Holger, Wasserman, Wyeth W., Wevers, Ron A., Engelke, Udo F., Rodenburg, Richard J., Ting, Teck Wah, McFarland, Robert, Taylor, Robert W., Salvarinova, Ramona, van Karnebeek, Clara D.M.
Publicado 2018

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

por Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Publicado 2014