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Adrian Dockery
Adrian Dockery
The Mater Misericordiae University Hospital
在 tcd.ie 的电子邮件经过验证
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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
1122020
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
842017
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
602016
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
532017
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
412020
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
312021
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
292021
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
222022
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
182022
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
122021
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
112023
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
112022
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
92020
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
72021
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
72019
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
52018
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
42022
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
42022
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
32023
Variant reclassification and clinical implications
N Walsh, A Cooper, A Dockery, JJ O'Byrne
Journal of medical genetics 61 (3), 207-211, 2024
22024
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