Search details
1.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genet Med
; 22(3): 598-609, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31700164
2.
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Am J Hum Genet
; 99(2): 470-80, 2016 Aug 04.
Article
in English
| MEDLINE | ID: mdl-27486781
3.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Am J Hum Genet
; 98(5): 981-992, 2016 05 05.
Article
in English
| MEDLINE | ID: mdl-27108798
4.
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Hum Mutat
; 36(12): 1188-96, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26316326
5.
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.
Hum Mutat
; 36(1): 39-42, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25346251
6.
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Am J Hum Genet
; 91(3): 527-32, 2012 Sep 07.
Article
in English
| MEDLINE | ID: mdl-22901948
7.
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 321-30, 2012 Feb 10.
Article
in English
| MEDLINE | ID: mdl-22325361
8.
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
Genet Med
; 17(4): 291-9, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25122145
9.
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Genet Med
; 16(9): 671-80, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24625443
10.
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.
J Neuroophthalmol
; 34(2): 137-43, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24621862
11.
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
Am J Hum Genet
; 85(5): 730-6, 2009 Nov.
Article
in English
| MEDLINE | ID: mdl-19896109
12.
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Am J Hum Genet
; 84(4): 493-8, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19327736
13.
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Genet Med
; 14(6): 576-85, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22261762
14.
Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes.
Mol Vis
; 17: 2072-9, 2011.
Article
in English
| MEDLINE | ID: mdl-21850183
15.
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Hum Mutat
; 31(10): E1709-66, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20683928
16.
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.
Ophthalmology
; 116(1): 154-162.e1, 2009 Jan.
Article
in English
| MEDLINE | ID: mdl-19004499
17.
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
Hum Mutat
; 29(11): E205-19, 2008 Nov.
Article
in English
| MEDLINE | ID: mdl-18642388
18.
A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.
Am J Med Genet A
; 146A(8): 1038-41, 2008 Apr 15.
Article
in English
| MEDLINE | ID: mdl-18348267
19.
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.
J Med Genet
; 44(5): 322-6, 2007 May.
Article
in English
| MEDLINE | ID: mdl-17220209
20.
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Invest Ophthalmol Vis Sci
; 47(3): 1167-76, 2006 Mar.
Article
in English
| MEDLINE | ID: mdl-16505055