Detalhe da pesquisa
1.
ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
Retina
; 41(6): 1346-1355, 2021 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34001834
2.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat
; 41(5): 998-1011, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999394
3.
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Clin Genet
; 97(3): 426-436, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721179
4.
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Hum Mutat
; 40(5): 539-551, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668888
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486781
6.
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Genet Med
; 21(8): 1998, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30297699
7.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(4): 1028, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607024
8.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(6): 1319-1329, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377383
9.
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Genet Med
; 20(2): 202-213, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28749477
10.
High-throughput PCR assay design for targeted resequencing using primerXL.
BMC Bioinformatics
; 18(1): 400, 2017 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28877663
11.
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Genet Med
; 19(4): 367-376, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27490115
12.
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.
Genet Med
; 19(4): 457-466, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27608171
13.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-26316326
14.
Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.
Hum Mutat
; 36(3): 379-87, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504618
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-25346251
16.
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Am J Hum Genet
; 91(3): 527-32, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22901948
17.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-25122145
18.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-24625443
19.
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.
Nat Commun
; 15(1): 1600, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383453
20.
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Genome Med
; 16(1): 7, 2024 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184646