Alpha 2.0
Login Register
» Authors » Genevieve Wright

Genevieve Wright

Explore the profile of Genevieve Wright including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 18
Citations 484
Followers 0
Related Specialties
Ophthalmology
Genetics
Cell Biology
Top 10 Co-Authors
Andrew R Webster
Michel Michaelides
Omar A Mahroo
Gavin Arno
Anthony G Robson
Samantha Malka
Elena Schiff
Anthony T Moore
Nikolas Pontikos
Michalis Georgiou
Published In
Invest Ophthalmol Vis Sci
Ophthalmology
Am J Hum Genet
Ophthalmol Retina
Mol Vis
Affiliations
Soon will be listed here.
Recent Articles
1.
PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History
Hashem S, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Varela M, et al.
Ophthalmol Retina . 2024 Sep; 9(3):278-287. PMID: 39218074
Purpose: To analyze the genetics, clinical characteristics, and natural history of PDE6A-associated retinitis pigmentosa. Design: Retrospective, longitudinal, observational cohort study. Participants: Patients with molecularly confirmed PDE6A-associated retinal dystrophy in a...
2.
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Malka S, Biswas P, Berry A, Sangermano R, Ullah M, Lin S, et al.
Am J Hum Genet . 2024 Aug; 111(9):2012-2030. PMID: 39191256
Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the...
3.
Investigating Splice Defects in Using Targeted Long-Read Sequencing
Chandrasekhar S, Lin S, Jurkute N, Oprych K, Estramiana Elorrieta L, Schiff E, et al.
Cells . 2024 Aug; 13(15. PMID: 39120292
Biallelic variants in are associated with retinitis pigmentosa (RP) and Type 2 Usher Syndrome (USH2), leading to impaired vision and, additionally, hearing loss in the latter. Although the introduction of...
4.
CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History
de Guimaraes T, Robson A, de Guimaraes I, Laich Y, Aychoua N, Wright G, et al.
Invest Ophthalmol Vis Sci . 2024 Jul; 65(8):27. PMID: 39017633
Purpose: The purpose of this study was to analyze the clinical spectrum and natural history of CDH23-associated Usher syndrome type ID (USH1D). Methods: Molecularly-confirmed individuals had data extracted from medical...
5.
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease
Varela M, Schiff E, Malka S, Wright G, Mahroo O, Webster A, et al.
Invest Ophthalmol Vis Sci . 2024 Feb; 65(2):38. PMID: 38411969
Purpose: To investigate the molecular effect of the variant PHYH:c.678+5G>T. This variant has conflicting interpretations in the ClinVar database and a maximum allele frequency of 0.0045 in the South Asian...
6.
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort
Lin S, Vermeirsch S, Pontikos N, Martin-Gutierrez M, Varela M, Malka S, et al.
Ophthalmol Retina . 2024 Jan; 8(7):699-709. PMID: 38219857
Purpose: Inherited retinal disease (IRD) is a leading cause of blindness. Recent advances in gene-directed therapies highlight the importance of understanding the genetic basis of these disorders. This study details...
7.
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1
Martin-Gutierrez M, Schiff E, Wright G, Waseem N, Mahroo O, Michaelides M, et al.
Invest Ophthalmol Vis Sci . 2022 Aug; 63(9):14. PMID: 35947379
Purpose: Autosomal dominant cone rod dystrophy 7 (CORD7) was initially linked to the gene RIMS1 and reported in a 4-generation British family in 1998. The purpose of this study was...
8.
Think globally, measure locally: The MIREN standardized protocol for monitoring plant species distributions along elevation gradients
Haider S, Lembrechts J, McDougall K, Pauchard A, Alexander J, Barros A, et al.
Ecol Evol . 2022 Feb; 12(2):e8590. PMID: 35222963
Climate change and other global change drivers threaten plant diversity in mountains worldwide. A widely documented response to such environmental modifications is for plant species to change their elevational ranges....
9.
Panel-based genetic testing for inherited retinal disease screening 176 genes
Sheck L, Esposti S, Mahroo O, Arno G, Pontikos N, Wright G, et al.
Mol Genet Genomic Med . 2021 Mar; 9(12):e1663. PMID: 33749171
Background: This case series reports the performance of a next-generation sequencing (NGS) panel of 176 retinal genes (NGS 176) in patients with inherited retinal disease (IRD). Methods: Subjects are patients...
10.
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials
Casalino G, Khan K, Armengol M, Wright G, Pontikos N, Georgiou M, et al.
Ophthalmology . 2020 Oct; 128(5):706-718. PMID: 33039401
Purpose: To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort of children and adults. Design: Retrospective case series. Participants: Patients...