Genevieve A. Wright

发表

A phenotype-genotype correlation study of X-linked retinoschisis.

G. Holder, A. Webster, A. Moore, 2013, Ophthalmology.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

RDH12 retinopathy: novel mutations and phenotypic description

Dorothy A. Thompson, G. Holder, S. Bhattacharya, 2011, Molecular vision.

Panel‐based genetic testing for inherited retinal disease screening 176 genes

O. Mahroo, Nikolas Pontikos, G. Arno, 2021, Molecular genetics & genomic medicine.

Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

K. Tsubota, G. Holder, K. Tsunoda, 2014, Ophthalmology.

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

P. Yu-Wai-Man, O. Mahroo, Nikolas Pontikos, 2020, Ophthalmology.

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

G. Holder, P. Sergouniotis, A. Webster, 2010, Molecular vision.

Autosomal Recessive Bestrophinopathy

G. Casalino, Nikolas Pontikos, M. Michaelides, 2020, Ophthalmology.

Autosomal recessive bestrophinopathy: clinical features, natural history and genetic findings in preparation for clinical trials

Nikolas Pontikos, M. Michaelides, A. Webster, 2020 .

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

R. MacLaren, P. Sergouniotis, A. Webster, 2012, Investigative ophthalmology & visual science.

Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa

Karen M. Oprych, G. Arno, M. Michaelides, 2021, British Journal of Ophthalmology.

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

Nikolas Pontikos, M. Michaelides, M. Neveu, 2019, Ophthalmology. Retina.

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

G. Holder, P. Sergouniotis, A. Webster, 2011, Ophthalmology.

Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.

K. Tsubota, G. Holder, K. Tsunoda, 2013, American journal of ophthalmology.

Macula-predominant retinopathy associated with biallelic variants in RDH12

G. Arno, M. Michaelides, A. Webster, 2020, Ophthalmic genetics.

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Dorothy A. Thompson, R. MacLaren, M. Michaelides, 2012, PloS one.

Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly.

S. Mansour, Nikolas Pontikos, G. Arno, 2019, American journal of ophthalmology.

Standing Balance Stability and the Effects of Light Touch in Adults With Profound Loss of Vision-An Exploratory Study.

G. Rubin, M. Michaelides, A. Kotecha, 2016, Investigative ophthalmology & visual science.

ABCA4 gene screening by next-generation sequencing in a British cohort.

K. Tsubota, K. Tsunoda, M. Michaelides, 2013, Investigative ophthalmology & visual science.

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Human mutation.

X-linked cone dystrophy caused by mutation of the red and green cone opsins.

Caterina Ripamonti, Naheed Kanuga, Michel Michaelides, 2010, American journal of human genetics.

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

G. Holder, P. Sergouniotis, M. Michaelides, 2009, American journal of human genetics.

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

G. Holder, R. Burgess, A. Webster, 2008, American journal of human genetics.

A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).

A. Stockman, C. Ripamonti, G. Holder, 2012, Advances in experimental medicine and biology.

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

P. Sergouniotis, A. Webster, A. Moore, 2011, Investigative ophthalmology & visual science.

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)

O. Mahroo, M. Michaelides, A. Webster, 2019, Ophthalmology.

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

O. Mahroo, G. Arno, M. Michaelides, 2020, Eye.

Clinicopathological case series of four patients with inherited macular disease.

G. Holder, L. da Cruz, F. Chen, 2009, Investigative ophthalmology & visual science.

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service

M. Michaelides, A. Webster, A. Moore, 2017, Clinical genetics.

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

O. Mahroo, G. Arno, M. Michaelides, 2022, Investigative ophthalmology & visual science.

Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2

G. Holder, M. Michaelides, A. Webster, 2011, British Journal of Ophthalmology.

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Human mutation.

ABCA4 gene screening by next-generation sequencing in a British cohort.

K. Tsubota, K. Tsunoda, M. Michaelides, 2013, Investigative ophthalmology & visual science.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Eleanor F. Dewhurst, K. Stirrups, D. Grozeva, 2017, American journal of human genetics.