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Publications

Stem Cell Treatment for Age-Related Macular Degeneration: the Challenges

Singh MS. and MacLaren RE., (2018), Investigative Opthalmology & Visual Science, 59, AMD78 - AMD78

Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene

Gray JM. et al, (2018), Ophthalmic Genetics, 39, 508 - 511

Choroideremia: molecular mechanisms and development of AAV gene therapy

Patrício MI. et al, (2018), Expert Opinion on Biological Therapy, 18, 807 - 820

A dual variable Markov model to assess the potential benefits of choroideremia gene therapy on quality adjusted life years (QALYs)

Halioua-Haubold C. et al, (2018)

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Whitworth J. et al, (2018), The American Journal of Human Genetics, 103, 3 - 18

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito Y. et al, (2018), The American Journal of Human Genetics, 103, 144 - 153

Olfactory Dysfunction in Patients WithCNGB1-Associated Retinitis Pigmentosa

Charbel Issa P. et al, (2018), JAMA Ophthalmology, 136, 761 - 761

Retinal Degeneration in Choroideremia follows an Exponential Decay Function

Aylward JW. et al, (2018), Ophthalmology, 125, 1122 - 1124

The Biological Activity of AAV Vectors for Choroideremia Gene Therapy Can Be Measured by In Vitro Prenylation of RAB6A

Patrício MI. et al, (2018), Molecular Therapy - Methods & Clinical Development, 9, 288 - 295

Optimising Testing Strategies When Conducting MAIA Microperimetry: MAIA Optimisation and Evolution

Jolly JK. et al, (2018)

Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi

Nanda A. et al, (2018), Ophthalmic Genetics, 39, 380 - 383

Ocular gene therapy for choroideremia: clinical trials and future perspectives

Xue K. and MacLaren RE., (2018), Expert Review of Ophthalmology, 13, 129 - 138

Emerging In Vitro 3D Tumour Models in Nanoparticle-Based Gene and Drug Therapy

Wong JK. et al, (2018), Trends in Biotechnology, 36, 477 - 480

Implantation, removal and replacement of subretinal electronic implants for restoration of vision in patients with retinitis pigmentosa

Gekeler K. et al, (2018), Current Opinion in Ophthalmology, 29, 239 - 247

A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia

Yusuf IH. et al, (2018), Ophthalmic Genetics, 39, 263 - 267

Gene therapy for the treatment of X-linked retinitis pigmentosa

Martinez-Fernandez De La Camara C. et al, (2018), Expert Opinion on Orphan Drugs, 6, 167 - 177

Assessment of the Electronic Retinal Implant Alpha AMS in Restoring Vision to Blind Patients with End-Stage Retinitis Pigmentosa

Edwards TL. et al, (2018), Ophthalmology, 125, 432 - 443

A clinical-grade gene therapy vector for pharmacoresistant epilepsy successfully overexpresses NPY in a human neuronal cell line

Patrício MI. et al, (2018), Seizure, 55, 25 - 29

Human Retinal Explant Culture for Ex Vivo Validation of AAV Gene Therapy

Orlans HO. et al, (2018), Retinal Gene Therapy, 289 - 303

Novel non-contiguous exon duplication in choroideremia

Edwards TL. et al, (2018), Clinical Genetics, 93, 144 - 148

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