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Publications

An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story

Al-Khuzaei S. et al, (2021), Genes, 12, 1241 - 1241

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.

Al-Khuzaei S. et al, (2021), BMC Ophthalmol, 21

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.

Downes SM. et al, (2020), Genes (Basel), 11

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.

Al-Khuzaei S. et al, (2020), Genes (Basel), 11

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".

Cundy O. et al, (2020), Eye (Lond)

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

Shah M. et al, (2020), JAMA Ophthalmol, 138, 544 - 551

Genotype-Phenotype Analysis of Three Novel NR2E3 Mutations

Al-Khuzaei SA. et al, (2019), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 60

Two novel homozygous splicing mutations in ARL2BP cause autosomal recessive Retinitis Pigmentosa

Fiorentino A. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 43 - 44

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

Taylor RL. et al, (2019), Ophthalmology

Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors.

Campla CK. et al, (2018), Hum Mol Genet

Deletion of an Nrl-regulated alternative promoter results in retina-specific silencing of Frmpd1, a gene involved in mediating rod adaptation

Campla CK. et al, (2018), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 59

Expression of an opsin protein in developing starburst amacrine cells

Sekaran S. et al, (2018), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 59

Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy.

Broadgate S. et al, (2018), Acta Ophthalmol, 96 Suppl A111, 1 - 51

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

Fiorentino A. et al, (2018), Mol Vis, 24, 603 - 612

Pheno4J: a gene to phenotype graph database.

Mughal S. et al, (2017), Bioinformatics, 33, 3317 - 3319

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

Pontikos N. et al, (2017), Bioinformatics, 33, 2421 - 2423

Unravelling the genetics of inherited retinal dystrophies: Past, present and future.

Broadgate S. et al, (2017), Prog Retin Eye Res, 59, 53 - 96

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.

Khan KN. et al, (2017), Invest Ophthalmol Vis Sci, 58, 2906 - 2914

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

Xu M. et al, (2017), Am J Hum Genet, 100, 592 - 604

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

Arno G. et al, (2017), Am J Hum Genet, 100, 334 - 342

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