Detalhe da pesquisa
1.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genet Med
; 25(3): 100345, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36524988
2.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
J Med Genet
; 59(5): 438-444, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33910932
3.
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Hum Genet
; 141(11): 1723-1738, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35226187
4.
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35055178
5.
Next-Generation Sequencing Applications for Inherited Retinal Diseases.
Int J Mol Sci
; 22(11)2021 May 26.
Artigo
Inglês
| MEDLINE | ID: mdl-34073611
6.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genet Med
; 22(7): 1235-1246, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32307445
7.
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
JAMA Ophthalmol
; 2024 Apr 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38602673
8.
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Sci Rep
; 13(1): 9380, 2023 06 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37296172
9.
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
HGG Adv
; 4(4): 100237, 2023 Oct 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37705246
10.
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Invest Ophthalmol Vis Sci
; 64(10): 23, 2023 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37466950
11.
A Novel, Simple Rapid Reverse-Phase HPLC-DAD Analysis, for the Simultaneous Determination of Phenolic Compounds and Abscisic Acid Commonly Found in Foodstuff and Beverages.
J Chromatogr Sci
; 60(7): 648-654, 2022 Sep 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34553229
12.
MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.
Case Rep Ophthalmol
; 13(3): 1015-1023, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36605040
13.
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
NPJ Genom Med
; 6(1): 97, 2021 Nov 18.
Artigo
Inglês
| MEDLINE | ID: mdl-34795310
14.
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.
Orphanet J Rare Dis
; 16(1): 200, 2021 05 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33952326
15.
Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.
Genes (Basel)
; 11(1)2020 01 16.
Artigo
Inglês
| MEDLINE | ID: mdl-31963381
16.
The ultra-performance liquid chromatography determination of domperidone and its process-related impurities.
J Chromatogr Sci
; 53(2): 226-32, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24904093
17.
Development and validation of a rapid liquid chromatographic method for the determination of oxatomide and its related impurities.
J Chromatogr Sci
; 52(10): 1267-72, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24474428
18.
Pre-operative brain injury in newborn infants with transposition of the great arteries occurs at rates similar to other complex congenital heart disease and is not related to balloon atrial septostomy.
J Am Coll Cardiol
; 53(19): 1807-11, 2009 May 12.
Artigo
Inglês
| MEDLINE | ID: mdl-19422989