A. Hardcastle

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Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT

Christopher S. Langlo, Emily J Patterson, J. Neitz, 2021, Ophthalmology science.

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.

Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation

V. Tesar, K. Jirsova, A. Hardcastle, 2014, Ophthalmic Research.

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

F. Fitzke, A. Moore, J. Yates, 2003, The British journal of ophthalmology.

with X linked congenital stationary night blindness Genotype-phenotype correlation in British families

F. Fitzke, A. Moore, J. Yates, 2003 .

The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

N. Kanuga, M. Cheetham, M. Bailly, 2010, Human molecular genetics.

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Milly S. Tedja, David M. Evans, C. Sudlow, 2020, Communications Biology.

Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.

P. Deloukas, R. Gwilliam, E. Huckle, 2005, Investigative ophthalmology & visual science.

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting.

K. Willison, P. Adamson, M. Cheetham, 2003, The Biochemical journal.

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.

R. Wait, T. Novoselova, M. Cheetham, 2012, Human molecular genetics.

The role of the X-linked retinitis pigmentosa protein RP2 in vesicle traffic and cilia function.

M. Cheetham, A. Hardcastle, N. Schwarz, 2012, Advances in experimental medicine and biology.

Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2.

M. Cheetham, A. Hardcastle, R. Evans, 2006, Experimental eye research.

Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa.

M. Cheetham, A. Hardcastle, J. Chapple, 2005, Methods in enzymology.

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.

Arunashree Bhamidipati, K. Willison, P. Luthert, 2002, Human molecular genetics.

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.

K. Willison, M. Cheetham, A. Hardcastle, 2000, Human molecular genetics.

Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.

K. Willison, M. Cheetham, A. Hardcastle, 2002, Investigative ophthalmology & visual science.

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

Alessia Fiorentino, Nikolas Pontikos, Michel Michaelides, 2016, JAMA ophthalmology.

Association of Steroid 5&agr;-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

Rachel L. Taylor, Katherine R. Smith, J. Clayton-Smith, 2017, JAMA ophthalmology.

Identification of the gene for Nance-Horan syndrome (NHS)

A. Moore, O. Lehmann, S. Brooks, 2004, Journal of Medical Genetics.

Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2.

S. Bhattacharya, A. Hardcastle, D. Thiselton, 1997, Investigative ophthalmology & visual science.

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

S. Tuft, Nikolas Pontikos, S. Kmoch, 2018, American journal of human genetics.

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.

D. Sharon, U. Wolfrum, J. Sosna, 2013, American journal of human genetics.

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism

F. Alkuraya, A. Hardcastle, M. Aldahmesh, 2012, British Journal of Ophthalmology.

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.

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

C. Thompson, L. da Cruz, P. Coffey, 2017, Human molecular genetics.

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

D. Gerrelli, S. Tuft, V. Plagnol, 2016, American journal of human genetics.

Mutations in the RP2 gene cause disease in 10% of familial XLRP assessed in this study

Robert W. Taylor, M. Jay, S. Bhattacharya, 1999 .

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

C. Thompson, L. da Cruz, P. Coffey, 2017, Human molecular genetics.

Retinal asymmetry in multiple sclerosis

Charles A Reisman, Charles A. Reisman, C. Sudlow, 2020, Brain : a journal of neurology.

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

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

Novel disease‐causing variants and phenotypic features of X‐linked megalocornea

S. Tuft, A. Filouš, A. Hardcastle, 2021, Acta ophthalmologica.

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

S. Halford, F. Raymond, K. Carss, 2018, Molecular vision.

Severe Meesmann’s epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12

S. Tuft, A. Hardcastle, G. Larkin, 2013, Eye.

Mutations in the CACNA1F and NYX genes in British CSNBX families

A. Meindl, A. Bird, A. Webster, 2003, Human mutation.

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.

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids

M. Cheetham, A. Hardcastle, N. Schwarz, 2020, Stem cell reports.

Abstracts of the 8th International Meeting

A. Rademaker, R. Eddy, T. Shows, 1999, Cytogenetic and Genome Research.

Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins

M. Cheetham, A. Hardcastle, N. Schwarz, 2012, Vision Research.

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI

L. Ficker, A. Hardcastle, S. Bhattacharya, 2004, Eye.

A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families

A. Wagner, S. Bhattacharya, I. Cree, 2003, Journal of medical genetics.

Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene.

G. Holder, P. Stanga, A. Hardcastle, 2001, Retina.

Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene.

F. Cremers, G. Arno, A. Webster, 2022, Ophthalmology.

A comparison of ERG abnormalities in XLRS and XLCSNB

A. Moore, A. Hardcastle, K. Bradshaw, 2004, Documenta Ophthalmologica.

In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients

K. Willison, A. Webster, M. Cheetham, 2001, Journal of medical genetics.

Foveal Cone Structure in Patients With Blue Cone Monochromacy

J. Neitz, M. Neitz, M. Michaelides, 2022, Investigative ophthalmology & visual science.

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.

S. Tuft, A. Hardcastle, A. Davidson, 2016, Investigative ophthalmology & visual science.

The pathogenesis of keratoconus

A E Davidson, S. Tuft, A. Hardcastle, 2014, Eye.

Innate and Adaptive Gene Single Nucleotide Polymorphisms Associated With Susceptibility of Severe Inflammatory Complications in Acanthamoeba Keratitis

K. Burdon, A. Hardcastle, J. Dart, 2021, Investigative ophthalmology & visual science.

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

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

Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family

S. Tuft, A. Ruiz Linares, A. Hardcastle, 2016, Cornea.

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Bennet J. McComish, R. Krauss, C. Klaver, 2021, Communications Biology.

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

S. Tuft, P. Adamson, P. Hysi, 2018, American journal of human genetics.

Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.

S. Tuft, K. Khaw, P. Foster, 2019, JAMA ophthalmology.

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

S. Tuft, J. Daniels, V. Plagnol, 2015, American journal of human genetics.

Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.

A. Hardcastle, P. Lišková, A. Vincent, 2013, JAMA ophthalmology.

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.

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy

P. Deloukas, R. Gwilliam, S. Tuft, 2007, Human mutation.

Macular corneal dystrophy and associated corneal thinning

S. Tuft, J. Bydžovský, K. Jirsova, 2014, Eye.

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

S. Tuft, S. Halford, S. Bhattacharya, 2002, Investigative ophthalmology & visual science.

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

S. Tuft, S. Bhattacharya, M. Cheetham, 2005, American journal of ophthalmology.

High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation

P. Deloukas, R. Gwilliam, S. Bhattacharya, 2012, PloS one.

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.

S. Tuft, E. Borasio, F. Alkuraya, 2015, Investigative ophthalmology & visual science.

A locus for isolated cataract on human Xp

S. Bhattacharya, S. Bhattacharya, A. Moore, 2002, Journal of medical genetics.

A Clinical and Molecular Genetic Study of Autosomal-Dominant Stromal Corneal Dystrophy in British Population

S. Bhattacharya, A. Hardcastle, N. Ebenezer, 2005, Ophthalmic Research.

A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families

S. Bhattacharya, I. Cree, D. Larkin, 2003 .

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

M. Trková, S. Tuft, V. Plagnol, 2015, European Journal of Human Genetics.

The cone dysfunction syndromes

M. Michaelides, J. Carroll, A. Dubis, 2004, British Journal of Ophthalmology.

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis

S. Tuft, Nikolas Pontikos, F. Munier, 2019, Experimental eye research.

Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

S. Tuft, K. Jirsova, A. Hardcastle, 2015, Annals of human genetics.

Clinical and molecular characterization of a family with autosomal recessive cornea plana.

A. Hardcastle, S. Hariprasad, R. Allen, 2005, Archives of ophthalmology.

Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)

Therese G. Kellgren, S. Tuft, O. Sandgren, 2015, Human mutation.

Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation

S. Tuft, S. Bhattacharya, K. Jirsova, 2007, British Journal of Ophthalmology.

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization

M. Trková, V. Plagnol, Nikolas Pontikos, 2018, Stem Cell Reviews and Reports.

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype

V. Plagnol, A. Moore, S. Hull, 2017, Human Genome Variation.

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

C. Scharfe, A. Meindl, S. Feil, 2000, Nature Genetics.

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

D. Hunt, M. Michaelides, A. Moore, 2006, Survey of ophthalmology.

Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.

M. Jay, S. Bhattacharya, A. Hardcastle, 1997, Investigative ophthalmology & visual science.

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.

M. Ross, J. Ramser, A. Meindl, 2002, Genomics.

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping.

S. Bhattacharya, A. Hardcastle, D. Thiselton, 1996, Genome research.

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Peter M. G. Munro, G. Holder, V. Plagnol, 2016, American journal of human genetics.

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus

A. Bird, S. Bhattacharya, S. Bhattacharya, 1999, Human Genetics.

Control of spasticity in a multiple sclerosis model using central nervous system‐excluded CB1 cannabinoid receptor agonists

A. Montpetit, A. Thompson, C. Ledent, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness

N. Risch, M. Kvale, S. Tuft, 2020, Communications Biology.

A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness

N. Risch, M. Kvale, M. Glymour, 2020, Communications Biology.

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

Sue Povey, S. Povey, A. Webster, 2004, Human molecular genetics.

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

Peter M. G. Munro, L. da Cruz, P. Coffey, 2016, Cell stem cell.

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

S. Tuft, A. Hardcastle, P. Lišková, 2018, BMC Ophthalmology.

X-linked cataract and Nance-Horan syndrome are allelic disorders

Soo-Mi Park, T. Webb, A. Moore, 2009, Human molecular genetics.

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

S. Mundlos, S. Mead, M. Mhlanga, 2020, American journal of human genetics.

Modelling and rescue of RP2 Retinitis Pigmentosa using iPSC Derived Retinal Organoids

M. Cheetham, A. Hardcastle, G. Farrar, 2020, bioRxiv.

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

A. Webster, M. Cheetham, D. Bamiou, 2003, Journal of medical genetics.

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

Tyson A. Clark, S. Tuft, Y. Tsai, 2019, Genetics in Medicine.

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

Stephanie Halford, Julius O. B. Jacobsen, Daniel Greene, 2017, Bioinform..

RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options

M. Michaelides, Alexander J. Smith, A. Hardcastle, 2016, British Journal of Ophthalmology.

Inactivation of the (+) gamete agglutinin during the mating-type reaction in chlamydomonas

A. Hardcastle, L. Wiese, M. Stewart, 1984 .

Translational Retinal Research and Therapies

P. Sieving, J. Sahel, A. Cideciyan, 2018, Translational vision science & technology.

New Developments in Vision Research Translational Retinal Research and Therapies

Artur, P. Sieving, J. Sahel, 2018 .

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).

D. Hunt, S. Halford, A. Moore, 2003, Genomics.

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

A. Stockman, G. Holder, M. Michaelides, 2005, Investigative ophthalmology & visual science.

New mutations in the NHS gene in Nance–Horan Syndrome families from the Netherlands

A. Bergen, M. Mannens, S. Brooks, 2006, European Journal of Human Genetics.

Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa

A. Bird, M. Jay, C. Flaxel, 1999, The British journal of ophthalmology.

Identification of three novel NHS mutations in families with Nance-Horan syndrome

Kristen M. Huang, R. Lewis, S. Brooks, 2007, Molecular vision.

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS)

A. Moore, P. Francis, E. Maher, 2004, Ophthalmic genetics.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

Mutation of ARHGEF 18 causes adult-onset retinal degeneration and underscores a key role of apicobasal polarity proteins in the maintenance of human photoreceptors

G. Holder, V. Plagnol, F. Raymond, 2022 .

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

R. Pfundt, H. Le Hir, P. Stoilov, 2017, American journal of human genetics.

Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort: The UK Biobank.

Emanuele Trucco, Ruth E. Hogg, David P. Crabb, 2020, Ophthalmology.

Novel frameshift mutations in the RP2 gene and polymorphic variants

A. Bird, M. Jay, S. Bhattacharya, 2000, Human mutation.

Investigation of SLA4A3 as a candidate gene for human retinal disease

C. Mellersh, M. Michaelides, A. Webster, 2016, Journal of Negative Results in BioMedicine.

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.

Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling.

A. Webster, S. Peirson, M. Cheetham, 2007, Investigative ophthalmology & visual science.

Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel

J. Weber, A. Child, G. Brice, 2007, Journal of Medical Genetics.

Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

S. Bhattacharya, S. Bhattacharya, M. Gorin, 2000, Investigative ophthalmology & visual science.

Corneal Endothelial Findings in a Czech Patient with Compound Heterozygous Mutations in KERA

A. Hardcastle, P. Lišková, L. Dudakova, 2014, Ophthalmic genetics.

Unfolding retinal dystrophies: a role for molecular chaperones?

M. Cheetham, A. Hardcastle, J. van der Spuy, 2001, Trends in molecular medicine.

Sequence variation within the RPGR gene: Evidence for a founder complex allele

S. Bhattacharya, I. Winship, A. Morris, 2000, Human mutation.

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

S. Bhattacharya, C. Inglehearn, A. Hardcastle, 1993, Human mutation.

Phenotype Associated with the H626P Mutation and Other Changes in the TGFBI Gene in Czech Families

S. Tuft, S. Bhattacharya, K. Jirsova, 2008, Ophthalmic Research.

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene

M. Michaelides, A. Hardcastle, P. Lišková, 2014, Molecular vision.

Blue cone monochromacy: Causative mutations and associated phenotypes

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

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

A. Bird, M. Jay, S. Bhattacharya, 1999, 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.

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

Rachel L. Taylor, S. Halford, V. Plagnol, 2019, Ophthalmology.

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

U. Wolfrum, K. Nagel-Wolfrum, L. da Cruz, 2014, Human molecular genetics.

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene

F. Fitzke, A. Webster, M. Cheetham, 2004, British Journal of Ophthalmology.

Novel mutations of the RPGR gene in RP3 families

A. Bird, S. Bhattacharya, M. Gorin, 2000, Human mutation.

DiVerence between RP2 and RP3 phenotypes in X linked retinitis pigmentosa

A. Bird, M. Jay, A. Wright, 1999 .

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.

U. Wolfrum, K. Nagel-Wolfrum, M. Cheetham, 2010, Human molecular genetics.

Identification and Correct ion of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups Graphical

Peter R. T. Munro, P. Coffey, A. Moore, 2016 .

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 .

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

Nikolas Pontikos, G. Arno, M. Michaelides, 2019, American journal of ophthalmology.

RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

O. Mahroo, Nikolas Pontikos, M. Michaelides, 2022, Ophthalmology.

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Stephanie Halford, Julius O. B. Jacobsen, Susan M. Downes, 2016, bioRxiv.

Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.

P. Coffey, M. Cheetham, A. Hardcastle, 2016, Biochemical Society transactions.

Identification and segregation analysis of rare ZNF469 coding variants in familial Keratoconus

S. Tuft, E. Borasio, V. Plagnol, 2014 .

Evidence for a new X-linked syndrome involving retinitis pigmentosa.

S. Downes, A. Hardcastle, G. Holder, 2001 .

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population

D. Mackey, L. Kearns, J. Ruddle, 2009, British Journal of Ophthalmology.

Focus on molecules: nyctalopin.

M. Cheetham, A. Hardcastle, S. Poopalasundaram, 2005, Experimental eye research.

Positional Cloning by Exon Trapping and cDNA Selection. An EMBO Practical Course. Edited by B. Korn, M.-L. Yaspo, H. Lehrach and A. Poutska. Chichester: Wiley/Heidelberg: Spektrum co-publication. 1999. Pp. 76 + index. £48.50 (spiral-bound paperback).

A. Hardcastle, 2000 .

Deciphering novel TCF4-driven molecular origins and mechanisms underlying a common triplet repeat expansion-mediated disease

S. Tuft, Nikolas Pontikos, M. Cheetham, 2023, bioRxiv.

Personalized model to predict keratoconus progression from demographic, topographic and genetic data.

Mary D. Fortune, P. Royston, S. Tuft, 2022, American journal of ophthalmology.

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.

Phenotype/genotype correlations in X-linked retinitis pigmentosa.

A. Hardcastle, G. Holder, A. Bird, 2001 .

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

C. Thompson, L. da Cruz, P. Coffey, 2017, Human molecular genetics.

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

E. Zackai, E. Bermejo, B. Weschke, 2003, Journal of medical genetics.

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 .

Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy

S. Tuft, C. Bunce, Nikolas Pontikos, 2023, Acta ophthalmologica.

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.

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.

U. Wolfrum, K. Nagel-Wolfrum, M. Cheetham, 2010, Human molecular genetics.

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.

Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

S. Tuft, C. Hammond, P. Hysi, 2019 .

Association between markers in chromosomal region 17q23 and young onset hypertension: a TDT study

P. Zusterzeel, A. Hardcastle, C. Fann, 2001 .

Retinal dysfunction and high myopia in association with 48,XXYY syndrome

G. Holder, A. Webster, A. Hardcastle, 2013, Documenta Ophthalmologica.