E-LIB Suche - Ergebnisse für: Dockery, Adrian

1

Variant reclassification and clinical implications:

Walsh, Nicola ; Cooper, Aislinn ; Dockery, Adrian.
Journal of Medical Genetics. , 2024

Link: https://doi.org/10.1136/..

2

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/..

3

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/..

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

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/..