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Dockery, Adrian
60
results:
Search for persons
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Online (60)
Mediatypes
Articles (Online) (20)
Bookchapter (Online) (1)
OpenAccess-fulltext (39)
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1
The Role of the Ophthalmic Genetics Multidisciplinary Team ..:
Conway, Marcus P.
;
Stephenson, Kirk A. J.
;
Zhu, Julia
...
Life. 14 (2024) 1 - p. 107 , 2024
Link:
https://doi.org/10.3390/..
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2
Variant reclassification and clinical implications:
Walsh, Nicola
;
Cooper, Aislinn
;
Dockery, Adrian
.
Journal of Medical Genetics. , 2024
Link:
https://doi.org/10.1136/..
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3
Detailed analysis of an enriched deep intronic ABCA4 varian..:
Whelan, Laura
;
Dockery, Adrian
;
Stephenson, Kirk A. J.
...
Scientific Reports. 13 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
4
Whole genome sequencing for USH2A-associated disease reveal..:
Reurink, Janine
;
Weisschuh, Nicole
;
Garanto, Alejandro
...
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100181 , 2023
Link:
https://doi.org/10.1016/..
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5
Usher Syndrome on the Island of Ireland: A Genotype-Phenoty..:
Stephenson, Kirk A. J.
;
Whelan, Laura
;
Zhu, Julia
...
Investigative Opthalmology & Visual Science. 64 (2023) 10 - p. 23 , 2023
Link:
https://doi.org/10.1167/..
?
6
MFRP-Associated Retinopathy and Nanophthalmos in Two Irish ..:
O'Connell, Ann
;
Zhu, Julia
;
Stephenson, Kirk A.J.
...
Case Reports in Ophthalmology. 13 (2022) 3 - p. 1015-1023 , 2022
Link:
https://doi.org/10.1159/..
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7
Electrophysiology-Guided Genetic Characterisation Maximises..:
Zhu, Julia
;
Stephenson, Kirk A. J.
;
Dockery, Adrian
...
Genes. 13 (2022) 4 - p. 615 , 2022
Link:
https://doi.org/10.3390/..
?
8
Clinical and Genetic Re-Evaluation of Inherited Retinal Deg..:
Stephenson, Kirk A. J.
;
Zhu, Julia
;
Dockery, Adrian
...
International Journal of Molecular Sciences. 23 (2022) 2 - p. 995 , 2022
Link:
https://doi.org/10.3390/..
?
9
Usher syndrome type IV: clinically and molecularly confirme..:
Velde, Hedwig M.
;
Reurink, Janine
;
Held, Sebastian
...
Human Genetics. 141 (2022) 11 - p. 1723-1738 , 2022
Link:
https://doi.org/10.1007/..
?
10
Next-Generation Sequencing Applications for Inherited Retin..:
Dockery, Adrian
;
Whelan, Laura
;
Humphries, Pete
.
International Journal of Molecular Sciences. 22 (2021) 11 - p. 5684 , 2021
Link:
https://doi.org/10.3390/..
?
11
Target 5000: a standardized all-Ireland pathway for the dia..:
Stephenson, Kirk A. J.
;
Zhu, Julia
;
Wynne, Niamh
...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
12
Molecular Inversion Probe-Based Sequencing of USH2A Exons a..:
Reurink, Janine
;
Dockery, Adrian
;
Oziębło, Dominika
...
International Journal of Molecular Sciences. 22 (2021) 12 - p. 6419 , 2021
Link:
https://doi.org/10.3390/..
?
13
Whole genome sequencing and in vitro splice assays reveal g..:
Fadaie, Zeinab
;
Whelan, Laura
;
Ben-Yosef, Tamar
...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
14
Findings from a Genotyping Study of over 1000 People with I..:
Whelan, Laura
;
Dockery, Adrian
;
Wynne, Niamh
...
Genes. 11 (2020) 1 - p. 105 , 2020
Link:
https://doi.org/10.3390/..
?
15
Resolving the dark matter of ABCA4 for 1054 Stargardt disea..:
Khan, Mubeen
;
Cornelis, Stéphanie S.
;
De Pozo-Valero, Marta l
...
Genetics in Medicine. 22 (2020) 7 - p. 1235-1246 , 2020
Link:
https://doi.org/10.1038/..
1-15