Adrian Dockery
Trinity College
H-index: 10
North America-United States
Top articles of Adrian Dockery
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis
JAMA ophthalmology
2024/4/11
Variant reclassification and clinical implications
2024/3/1
Adrian Dockery
H-Index: 5
The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations—A Case-Based Review
Life
2024/1/9
Julia Zhu
H-Index: 4
Adrian Dockery
H-Index: 5
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
Scientific Reports
2023/6/9
Secondary Acquired Features Represent Points of Intervention & Diagnostic Clues for Inherited Retinal Degenerations
Investigative Ophthalmology & Visual Science
2023/6/1
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Human Genetics and Genomics Advances
2023/4/13
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review
Investigative Ophthalmology & Visual Science
2023/7/3
MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report
Case Reports in Ophthalmology
2022/12/16
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Human Genetics
2022/11
A nonsense variant in PEX5 is associated with an atypical peroxisome biogenesis disorder and retinitis pigmentosa.
Investigative Ophthalmology & Visual Science
2022/6/1
Functional assessment of putative splice-altering variants detected in an Irish inherited retinal disease cohort
Investigative Ophthalmology & Visual Science
2022/6/1
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
Journal of Medical Genetics
2022/5/1
Electrophysiology-guided genetic characterisation maximises molecular diagnosis in an irish paediatric inherited retinal degeneration population
Genes
2022/3/29
Julia Zhu
H-Index: 4
Adrian Dockery
H-Index: 5
Clinical and genetic re-evaluation of inherited retinal degeneration pedigrees following initial negative findings on panel-based next generation sequencing
International Journal of Molecular Sciences
2022/1/17
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
International journal of molecular sciences
2021/6/15
Next-generation sequencing applications for inherited retinal diseases
2021/5/26
Adrian Dockery
H-Index: 5
Laura Whelan
H-Index: 2
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations
Orphanet journal of rare diseases
2021/5/5
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
NPJ genomic medicine
2021/11/18
Pigmentary retinopathy masked by asymmetric acquired phenomena
BMJ Case Reports
2021/11/1
Adrian Dockery
H-Index: 5
Genotype-phenotype correlations of known and novel variants in the PRPH2 gene.
Investigative Ophthalmology & Visual Science
2021/6/21
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