Search details
1.
Intravitreal enzyme replacement for inherited retinal diseases.
Curr Opin Ophthalmol
; 35(3): 232-237, 2024 May 01.
Article
in English
| MEDLINE | ID: mdl-38170785
2.
New variants and in silico analyses in GRK1 associated Oguchi disease.
Hum Mutat
; 42(2): 164-176, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33252155
3.
Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome.
Doc Ophthalmol
; 142(1): 119-126, 2021 02.
Article
in English
| MEDLINE | ID: mdl-32617723
4.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
; 100(1): 75-90, 2017 01 05.
Article
in English
| MEDLINE | ID: mdl-28041643
5.
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Clin Genet
; 98(2): 191-197, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32530092
6.
Accuracy of scleral transillumination techniques to identify infant ciliary body for sclerostomy and intravitreal injections.
Clin Exp Ophthalmol
; 47(4): 478-483, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30417514
7.
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Hum Mutat
; 39(1): 80-91, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28967191
8.
Immediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study.
Ophthalmology
; 123(8): 1802-1808, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27221737
9.
Wound-related complications and clinical outcomes following open globe injury repair.
Clin Exp Ophthalmol
; 43(6): 508-13, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25688653
10.
First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy.
Eye (Lond)
; 38(6): 1176-1182, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38049626
11.
Is RPGR-related retinal dystrophy associated with systemic disease? A case series.
Ophthalmic Genet
; 44(6): 577-584, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-36602268
12.
First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia.
Am J Ophthalmol
; 253: 243-251, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37172884
13.
Evolving outcomes of surgery for retinal detachment in retinopathy of prematurity: the need for a national service in the United Kingdom : An audit of surgery for acute tractional retinal detachment complicating ROP in the UK.
Eye (Lond)
; 36(8): 1590-1596, 2022 08.
Article
in English
| MEDLINE | ID: mdl-34290441
14.
RDH12 retinopathy: novel mutations and phenotypic description.
Mol Vis
; 17: 2706-16, 2011.
Article
in English
| MEDLINE | ID: mdl-22065924
15.
An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy.
Eye (Lond)
; 35(9): 2438-2448, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34272513
16.
SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.
Front Genet
; 12: 737094, 2021.
Article
in English
| MEDLINE | ID: mdl-34925443
17.
Traumatic Retinal Detachment in Patients with Self-Injurious Behavior: An International Multicenter Study.
Ophthalmol Retina
; 5(8): 805-814, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33238225
18.
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
Mol Vis
; 16: 46-52, 2010 Jan 15.
Article
in English
| MEDLINE | ID: mdl-20087419
19.
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
Mol Vis
; 16: 369-77, 2010 Mar 09.
Article
in English
| MEDLINE | ID: mdl-20300561
20.
Diffuse bear-track retina: profound, bilateral, grouped congenital pigmentation of the retinal pigment epithelium in an infant.
J AAPOS
; 24(6): 384-386, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33289665