Detalhe da pesquisa
1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
2.
Gene Editing for CEP290-Associated Retinal Degeneration.
N Engl J Med
; 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38709228
3.
Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration.
Hum Mol Genet
; 32(2): 204-217, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35943778
4.
Reduced nuclear NAD+ drives DNA damage and subsequent immune activation in the retina.
Hum Mol Genet
; 31(9): 1370-1388, 2022 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750622
5.
Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration.
Hum Mol Genet
; 30(8): 644-657, 2021 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709122
6.
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Am J Hum Genet
; 106(6): 893-904, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386558
7.
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.
Hum Mol Genet
; 29(6): 967-979, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32011687
8.
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).
Genet Med
; 24(2): 332-343, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906470
9.
Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial.
Ophthalmology
; 129(10): 1177-1191, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35714735
10.
WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Clin Genet
; 99(2): 298-302, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33124039
11.
Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway.
Hum Mol Genet
; 27(1): 147-159, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095988
12.
Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.
Hum Mol Genet
; 27(11): 2012-2024, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659833
13.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Hum Mol Genet
; 27(19): 3305-3312, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29917077
14.
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Genet Med
; 22(6): 1079-1087, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32037395
15.
Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
Mol Vis
; 26: 423-433, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32565670
16.
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Hum Mutat
; 40(8): 1127-1144, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30977563
17.
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.
Genet Med
; 21(3): 694-704, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30072743
18.
Parthanatos as a Cell Death Pathway Underlying Retinal Disease.
Adv Exp Med Biol
; 1185: 323-327, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884632
19.
In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases.
Adv Exp Med Biol
; 1185: 91-96, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884594
20.
Detection of Large Structural Variants Causing Inherited Retinal Diseases.
Adv Exp Med Biol
; 1185: 197-202, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884611