Detalhe da pesquisa
1.
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Am J Hum Genet
; 111(2): 393-402, 2024 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38272031
2.
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
Am J Hum Genet
; 109(3): 498-507, 2022 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35120629
3.
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.
Mol Ther
; 32(3): 837-851, 2024 Mar 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38243599
4.
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
Clin Genet
; 2024 Mar 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38468396
5.
Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease.
Proc Natl Acad Sci U S A
; 117(16): 9001-9012, 2020 04 21.
Artigo
Inglês
| MEDLINE | ID: mdl-32265282
6.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genet Med
; 22(7): 1235-1246, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32307445
7.
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Clin Genet
; 97(3): 426-436, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31721179
8.
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
Inglês
| MEDLINE | ID: mdl-27486781
9.
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
Inglês
| MEDLINE | ID: mdl-30297699
10.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genet Med
; 21(8): 1761-1771, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30670881
11.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med
; 21(8): 1751-1760, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30643219
12.
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
Inglês
| MEDLINE | ID: mdl-28749477
13.
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
Inglês
| MEDLINE | ID: mdl-27608171
14.
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10TâC Mutation in Stargardt Disease.
Ophthalmology
; 123(6): 1375-85, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26976702
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
Inglês
| MEDLINE | ID: mdl-25346251
16.
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
Inglês
| MEDLINE | ID: mdl-26316326
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
Inglês
| MEDLINE | ID: mdl-25122145
18.
Colour Vision in Stargardt Disease.
Ophthalmic Res
; 54(4): 181-94, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26492201
19.
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
Inglês
| MEDLINE | ID: mdl-24625443
20.
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
Inglês
| MEDLINE | ID: mdl-38383453