Detalhe da pesquisa
1.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863007
2.
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
Hum Mol Genet
; 33(11): 945-957, 2024 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38453143
3.
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Hum Mol Genet
; 32(12): 2005-2015, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36811936
4.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Genet Med
; : 101106, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38420906
5.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
; 107(5): 802-814, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022222
6.
Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.
Ophthalmology
; 130(12): 1313-1326, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541626
7.
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.
Genet Med
; 24(7): 1523-1535, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35486108
8.
Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations.
Mol Vis
; 27: 95-106, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33907365
9.
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.
Retina
; 41(5): 898-907, 2021 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33595255
10.
Correction: Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.
PLoS Pathog
; 13(1): e1006174, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28118396
11.
Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome.
Am J Med Genet A
; 179(11): 2233-2236, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31390148
12.
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.
Mol Ther
; 26(6): 1581-1593, 2018 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29673930
13.
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Hum Mol Genet
; 25(8): 1479-88, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908613
14.
Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.
PLoS Pathog
; 12(7): e1005772, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27454487
15.
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Hum Mutat
; 38(11): 1521-1533, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28714225
16.
A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration.
Pharmacogenet Genomics
; 26(1): 20-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26426212
17.
Mutations in IMPG1 cause vitelliform macular dystrophies.
Am J Hum Genet
; 93(3): 571-8, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993198
18.
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.
Genet Med
; 18(10): 1044-51, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26820066
19.
Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up.
Doc Ophthalmol
; 132(3): 213-29, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27041556
20.
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
Adv Exp Med Biol
; 854: 193-200, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26427411