Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics M Khan, SS Cornelis, MD Pozo-Valero, L Whelan, EH Runhart, K Mishra, ... Genetics in Medicine 22 (7), 1235-1246, 2020 | 112 | 2020 |
Toward an elucidation of the molecular genetics of inherited retinal degenerations GJ Farrar, M Carrigan, A Dockery, S Millington-Ward, A Palfi, ... Human molecular genetics 26 (R1), R2-R11, 2017 | 84 | 2017 |
Panel-based population next-generation sequencing for inherited retinal degenerations M Carrigan, E Duignan, CPG Malone, K Stephenson, T Saad, ... Scientific reports 6 (1), 33248, 2016 | 60 | 2016 |
Target 5000: target capture sequencing for inherited retinal degenerations A Dockery, K Stephenson, D Keegan, N Wynne, G Silvestri, P Humphries, ... Genes 8 (11), 304, 2017 | 53 | 2017 |
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 | 41 | 2020 |
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases Z Fadaie, L Whelan, T Ben-Yosef, A Dockery, Z Corradi, C Gilissen, ... NPJ genomic medicine 6 (1), 97, 2021 | 31 | 2021 |
Next-generation sequencing applications for inherited retinal diseases A Dockery, L Whelan, P Humphries, GJ Farrar International Journal of Molecular Sciences 22 (11), 5684, 2021 | 29 | 2021 |
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants HM Velde, J Reurink, S Held, CHZ Li, S Yzer, J Oostrik, J Weeda, ... Human Genetics 141 (11), 1723-1738, 2022 | 22 | 2022 |
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa Z Fadaie, L Whelan, A Dockery, CHZ Li, LI Van Den Born, CB Hoyng, ... Journal of Medical Genetics 59 (5), 438-444, 2022 | 18 | 2022 |
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 | 12 | 2021 |
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction J Reurink, N Weisschuh, A Garanto, A Dockery, LI van den Born, I Fajardy, ... Human Genetics and Genomics Advances 4 (2), 2023 | 11 | 2023 |
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 |
A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics KAJ Stephenson, A Dockery, M O’Keefe, A Green, GJ Farrar, DJ Keegan Eye 34 (4), 690-694, 2020 | 9 | 2020 |
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases J Reurink, A Dockery, D Oziębło, GJ Farrar, M Ołdak, JB Ten Brink, ... International journal of molecular sciences 22 (12), 6419, 2021 | 7 | 2021 |
A novel FLVCR1 variant implicated in retinitis pigmentosa A Dockery, M Carrigan, N Wynne, K Stephenson, D Keegan, PF Kenna, ... Retinal Degenerative Diseases: Mechanisms and Experimental Therapy, 203-207, 2019 | 7 | 2019 |
Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant K Stephenson, A Dockery, N Wynne, M Carrigan, P Kenna, G Jane Farrar, ... BMC Medical Genetics 19, 1-10, 2018 | 5 | 2018 |
MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report A O’Connell, J Zhu, KAJ Stephenson, L Whelan, A Dockery, J Turner, ... Case Reports in Ophthalmology 13 (3), 1015-1023, 2022 | 4 | 2022 |
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 | 4 | 2022 |
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients L Whelan, A Dockery, KAJ Stephenson, J Zhu, E Kopčić, IJM Post, ... Scientific Reports 13 (1), 9380, 2023 | 3 | 2023 |
Variant reclassification and clinical implications N Walsh, A Cooper, A Dockery, JJ O'Byrne Journal of medical genetics 61 (3), 207-211, 2024 | 2 | 2024 |