Search details
1.
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Hum Mol Genet
; 31(8): 1263-1277, 2022 04 22.
Article
in English
| MEDLINE | ID: mdl-34726233
2.
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Ophthalmology
; 130(4): 413-422, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36423731
3.
The diagnostic accuracy of photopic negative responses evoked by broadband and chromatic stimuli in a clinically heterogeneous population.
Doc Ophthalmol
; 147(3): 165-177, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37889400
4.
ISCEV guidelines for calibration and verification of stimuli and recording instruments (2023 update).
Doc Ophthalmol
; 146(3): 199-210, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-37269394
5.
ISCEV Standard for full-field clinical electroretinography (2022 update).
Doc Ophthalmol
; 144(3): 165-177, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35511377
6.
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Genet Med
; 23(3): 488-497, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33077892
7.
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Ophthalmology
; 128(5): 706-718, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33039401
8.
ISCEV standard for clinical multifocal electroretinography (mfERG) (2021 update).
Doc Ophthalmol
; 142(1): 5-16, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33492495
9.
Electrophysiology as a prognostic indicator of visual recovery in diabetic patients undergoing cataract surgery.
Graefes Arch Clin Exp Ophthalmol
; 259(7): 1879-1887, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33825028
10.
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Am J Med Genet C Semin Med Genet
; 184(3): 631-643, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32770643
11.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Am J Hum Genet
; 100(2): 334-342, 2017 Feb 02.
Article
in English
| MEDLINE | ID: mdl-28132693
12.
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Ann Neurol
; 86(3): 368-383, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31298765
13.
ISCEV extended protocol for the S-cone ERG.
Doc Ophthalmol
; 140(2): 95-101, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31749034
14.
ISCEV extended protocol for the stimulus-response series for the dark-adapted full-field ERG b-wave.
Doc Ophthalmol
; 138(3): 217-227, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30929109
15.
ISCEV extended protocol for the stimulus-response series for light-adapted full-field ERG.
Doc Ophthalmol
; 138(3): 205-215, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30929108
16.
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY: Detailed Clinical Study of a Large Cohort.
Retina
; 39(3): 514-529, 2019 Mar.
Article
in English
| MEDLINE | ID: mdl-29300249
17.
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
18.
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
Ophthalmology
; 125(6): 894-903, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29398085
19.
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
Ophthalmology
; 125(5): 735-746, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29310964
20.
Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration.
Ophthalmology
; 125(11): 1765-1775, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29884405