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1.
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
PLoS Genet
; 20(5): e1011230, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38713708
2.
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Am J Hum Genet
; 102(3): 447-459, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-29499165
3.
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
Am J Hum Genet
; 102(4): 528-539, 2018 04 05.
Article
in English
| MEDLINE | ID: mdl-29526280
4.
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Am J Hum Genet
; 99(6): 1338-1352, 2016 Dec 01.
Article
in English
| MEDLINE | ID: mdl-27839872
5.
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Am J Hum Genet
; 98(1): 75-89, 2016 Jan 07.
Article
in English
| MEDLINE | ID: mdl-26749309
6.
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.
Genet Med
; 21(9): 2092-2102, 2019 09.
Article
in English
| MEDLINE | ID: mdl-30733599
7.
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Exp Eye Res
; 182: 160-166, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30851240
8.
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.
Am J Hum Genet
; 93(2): 321-9, 2013 Aug 08.
Article
in English
| MEDLINE | ID: mdl-23849777
9.
Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).
Hum Mutat
; 36(4): 463-73, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25676728
10.
Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3.
Ann Hum Genet
; 79(1): 1-9, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25441224
11.
Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation.
Ophthalmic Res
; 53(1): 30-5, 2015.
Article
in English
| MEDLINE | ID: mdl-25500497
12.
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Hum Mutat
; 35(3): 289-93, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24375934
13.
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.
Hum Mutat
; 35(11): 1354-62, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25168334
14.
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Hum Mol Genet
; 21(16): 3647-54, 2012 Aug 15.
Article
in English
| MEDLINE | ID: mdl-22619378
15.
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
Am J Hum Genet
; 89(1): 183-90, 2011 Jul 15.
Article
in English
| MEDLINE | ID: mdl-21763485
16.
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
Am J Hum Genet
; 89(6): 782-91, 2011 Dec 09.
Article
in English
| MEDLINE | ID: mdl-22137173
17.
Retinal structure and function in achromatopsia: implications for gene therapy.
Ophthalmology
; 121(1): 234-245, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24148654
18.
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Am J Ophthalmol
; 258: 183-195, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37972748
19.
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
Hum Mutat
; 34(3): 506-14, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23281133
20.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Hum Mutat
; 34(11): 1537-1546, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23946133