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1.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Proc Natl Acad Sci U S A
; 119(27): e2115538119, 2022 07 05.
Article
in English
| MEDLINE | ID: mdl-35759666
2.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35332618
3.
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
J Med Genet
; 58(8): 570-578, 2021 08.
Article
in English
| MEDLINE | ID: mdl-32817297
4.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Int J Mol Sci
; 23(8)2022 Apr 13.
Article
in English
| MEDLINE | ID: mdl-35457110
5.
A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
Retina
; 41(8): 1771-1779, 2021 Aug 01.
Article
in English
| MEDLINE | ID: mdl-33315831
6.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Int J Mol Sci
; 22(12)2021 Jun 15.
Article
in English
| MEDLINE | ID: mdl-34203883
7.
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
Int J Mol Sci
; 22(23)2021 Nov 23.
Article
in English
| MEDLINE | ID: mdl-34884448
8.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Hum Mutat
; 41(1): 255-264, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31544997
9.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Hum Mutat
; 40(8): 1145-1155, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31058429
10.
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
Hum Mol Genet
; 26(22): 4367-4374, 2017 11 15.
Article
in English
| MEDLINE | ID: mdl-28973654
11.
Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.
Int J Mol Sci
; 20(10)2019 May 23.
Article
in English
| MEDLINE | ID: mdl-31126147
12.
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
Hum Mutat
; 39(10): 1366-1371, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30080950
13.
A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.
Hum Mol Genet
; 25(5): 916-26, 2016 Mar 01.
Article
in English
| MEDLINE | ID: mdl-26744326
14.
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Hum Genet
; 137(3): 279-280, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29435658
15.
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Hum Genet
; 137(2): 111-127, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-29305691
16.
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Am J Hum Genet
; 97(5): 754-60, 2015 Nov 05.
Article
in English
| MEDLINE | ID: mdl-26593267
17.
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
Mol Vis
; 23: 198-209, 2017.
Article
in English
| MEDLINE | ID: mdl-28442884
18.
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 92(1): 67-75, 2013 Jan 10.
Article
in English
| MEDLINE | ID: mdl-23246293
19.
Mutations in IMPG1 cause vitelliform macular dystrophies.
Am J Hum Genet
; 93(3): 571-8, 2013 Sep 05.
Article
in English
| MEDLINE | ID: mdl-23993198
20.
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Ophthalmology
; 123(9): 1989-98, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27395765