Search details
1.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Hum Mutat
; 42(6): 641-666, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33847019
2.
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
3.
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
4.
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Ophthalmology
; 127(10): 1384-1394, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32423767
5.
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.
Ophthalmology
; 128(6): 952-955, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33137351
6.
Prph2 mutations as a cause of electronegative ERG.
Retina
; 34(6): 1235-43, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24608669
7.
Phenotypic and genotypic features of POC1B-associated cone dystrophy.
Ophthalmic Genet
; 45(1): 72-77, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37246743
8.
PRPS1-associated retinopathy: a diagnostic odyssey.
Ophthalmic Genet
; : 1-5, 2024 Apr 15.
Article
in English
| MEDLINE | ID: mdl-38619019
9.
Clinical characteristics of early retinal disease due to CDHR1 mutation.
Mol Vis
; 19: 2250-9, 2013.
Article
in English
| MEDLINE | ID: mdl-24265541
10.
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.
Ophthalmol Retina
; 7(10): 918-931, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37331655
11.
MONOZYGOTIC TWINS DISCORDANT FOR ASYMMETRIC PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY.
Retin Cases Brief Rep
; 16(4): 507-510, 2022 Jul 01.
Article
in English
| MEDLINE | ID: mdl-32541437
12.
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.
Ophthalmology
; 123(3): 668-71.e2, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26560832
13.
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.
Eye (Lond)
; 35(5): 1482-1489, 2021 May.
Article
in English
| MEDLINE | ID: mdl-32681094
14.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
NPJ Genom Med
; 6(1): 53, 2021 Jun 29.
Article
in English
| MEDLINE | ID: mdl-34188062
15.
Macula-predominant retinopathy associated with biallelic variants in RDH12.
Ophthalmic Genet
; 41(6): 612-615, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32790509
16.
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.
JAMA Ophthalmol
; 138(2): 200-203, 2020 02 01.
Article
in English
| MEDLINE | ID: mdl-31804667
17.
Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis.
Ophthalmic Genet
; : 1-4, 2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38767358
18.
Macular maldevelopment in ATF6-mediated retinal dysfunction.
Ophthalmic Genet
; 40(6): 564-569, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31900015
19.
Isolated rod dysfunction associated with a novel genotype of CNGB1.
Am J Ophthalmol Case Rep
; 14: 83-86, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-30976726
20.
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.
Invest Ophthalmol Vis Sci
; 59(12): 4812-4820, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-30347075