| High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 430 | 2017 |
| Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 AR Foley, MP Menezes, A Pandraud, MA Gonzalez, A Al-Odaib, ... Brain 137 (1), 44-56, 2014 | 190 | 2014 |
| The human bile acid-CoA: amino acid N-acyltransferase functions in the conjugation of fatty acids to glycine J O'Byrne, MC Hunt, DK Rai, M Saeki, SEH Alexson Journal of Biological Chemistry 278 (36), 34237-34244, 2003 | 100 | 2003 |
| The peroxisome proliferator-induced cytosolic type I acyl-CoA thioesterase (CTE-I) is a serine-histidine-aspartic acid α/β hydrolase K Huhtinen, J O'Byrne, PJG Lindquist, JA Contreras, SEH Alexson Journal of Biological Chemistry 277 (5), 3424-3432, 2002 | 73 | 2002 |
| A peroxisomal acyltransferase in mouse identifies a novel pathway for taurine conjugation of fatty acids SJ Reilly, EM O'Shea, U Andersson, J O'Byrne, SEH Alexson, MC Hunt The FASEB Journal 21 (1), 99-107, 2007 | 51 | 2007 |
| Findings from a genotyping study of over 1000 people with inherited retinal disorders in Ireland L Whelan, A Dockery, N Wynne, J Zhu, K Stephenson, G Silvestri, ... Genes 11 (1), 105, 2020 | 44 | 2020 |
| Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations JJ O’Byrne, SA Lynch, EP Treacy, MD King, DR Betts, PD Mayne, F Sharif Irish Journal of Medical Science (1971-) 185, 241-248, 2016 | 36 | 2016 |
| The genotypic and phenotypic spectrum of MTO1 deficiency JJ O'Byrne, M Tarailo-Graovac, A Ghani, M Champion, C Deshpande, ... Molecular genetics and metabolism 123 (1), 28-42, 2018 | 30 | 2018 |
| Designing rare disease care pathways in the Republic of Ireland: a co-operative model AJ Ward, D Murphy, R Marron, V McGrath, M Bolz-Johnson, W Cullen, ... Orphanet Journal of Rare Diseases 17 (1), 162, 2022 | 23 | 2022 |
| Oculo–facio–cardio–dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness JJ O'Byrne, E Laffan, DJ Murray, W Reardon American Journal of Medical Genetics Part A 173 (5), 1374-1377, 2017 | 18 | 2017 |
| Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations KAJ Stephenson, J Zhu, N Wynne, A Dockery, RM Cairns, E Duignan, ... Orphanet journal of rare diseases 16 (1), 200, 2021 | 16 | 2021 |
| Optimized OPA1 Isoforms 1 and 7 provide therapeutic benefit in models of mitochondrial dysfunction DM Maloney, N Chadderton, S Millington-Ward, A Palfi, C Shortall, ... Frontiers in Neuroscience 14, 571479, 2020 | 15 | 2020 |
| Idiopathic intracranial hypertension associated with iron-deficiency anaemia EB Forman, JJ O'Byrne, L Capra, E McElnea, MD King Archives of disease in childhood 98 (6), 418-418, 2013 | 14 | 2013 |
| The genetic and biochemical basis of trimethylaminuria in an Irish cohort S Doyle, JJ O'Byrne, M Nesbitt, DN Murphy, Z Abidin, N Byrne, G Pastores, ... JIMD reports 47 (1), 35-40, 2019 | 12 | 2019 |
| Clinical and genetic re-evaluation of inherited retinal degeneration pedigrees following initial negative findings on panel-based next generation sequencing KAJ Stephenson, J Zhu, A Dockery, L Whelan, T Burke, J Turner, ... International Journal of Molecular Sciences 23 (2), 995, 2022 | 11 | 2022 |
| Variant reclassification and clinical implications N Walsh, A Cooper, A Dockery, JJ O'Byrne Journal of medical genetics 61 (3), 207-211, 2024 | 10 | 2024 |
| The role of the European society of human genetics in delivering genomic education ES Tobias, E Avram, P Calapod, C Cordier, JT Den Dunnen, C Ding, ... Frontiers in genetics 12, 693952, 2021 | 7 | 2021 |
| Incidence of Fragile X syndrome in Ireland JJ O'Byrne, M Sweeney, DE Donnelly, DM Lambert, ED Beattie, ... American Journal of Medical Genetics Part A 173 (3), 678-683, 2017 | 7 | 2017 |
| Germline mosaicism in osteopathia striata with cranial sclerosis–recurrence in siblings JJ O’Byrne, E Phelan, E Steenackers, W Van Hul, W Reardon Clinical Dysmorphology 25 (2), 45-49, 2016 | 7 | 2016 |
| Electrophysiology-guided genetic characterisation maximises molecular diagnosis in an irish paediatric inherited retinal degeneration population J Zhu, KAJ Stephenson, A Dockery, J Turner, JJ O’Byrne, S Fitzsimon, ... Genes 13 (4), 615, 2022 | 5 | 2022 |
