J. C. Gardner

发表

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.

David Williams, A. Dubra, J. Neitz, 2012, Investigative ophthalmology & visual science.

Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants

G. Holder, G. Liew, M. Michaelides, 2014, Human mutation.

Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations

J. Neitz, M. Neitz, M. Michaelides, 2018, Investigative ophthalmology & visual science.

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

T. Webb, M. Gorin, M. Michaelides, 2012, Human molecular genetics.

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

S. Tuft, V. Plagnol, T. Webb, 2014, PloS one.

Missense variants in the X‐linked gene PRPS1 cause retinal degeneration in females

V. Plagnol, Nikolas Pontikos, G. Arno, 2018, Human mutation.

Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations.

M. Michaelides, J. C. Gardner, A. Hardcastle, 2016, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

A. Cideciyan, S. Jacobson, B. Lorenz, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.

A. V. Cideciyan, A. Cideciyan, S. Schwartz, 2013, Human gene therapy.

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

S. Sisodiya, D. Mackey, S. Tuft, 2012, American Journal of Human Genetics.

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.

Blue cone monochromacy: Causative mutations and associated phenotypes

John D. Mollon, Alison J. Hardcastle, Naheed Kanuga, 2009, Molecular vision.

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.

Visual Psychophysics and Physiological Optics Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency

Christopher S. Langlo, Emily J Patterson, A. Dubra, 2016 .

Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations

Emily J Patterson, J. Neitz, M. Neitz, 2018, Investigative ophthalmology & visual science.

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency

Christopher S. Langlo, Emily J Patterson, A. Dubra, 2016, Investigative ophthalmology & visual science.

The role of Musashi-1 in CEP290 c.2991+1655A>G cryptic exon splicing in Leber Congenital Amaurosis

M. Cheetham, A. Hardcastle, J. C. Gardner, 2021 .

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.

David Williams, A. Dubra, J. Neitz, 2012, Investigative ophthalmology & visual science.

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

S. Sisodiya, D. Mackey, S. Tuft, 2012, American journal of human genetics.