Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance

por Ellingford, Jamie M., Hufnagel, Robert B., Arno, Gavin
Publicado 2020

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

por Lima Cunha, Dulce, Arno, Gavin, Corton, Marta, Moosajee, Mariya
Publicado 2019

Practical guide to genetic screening for inherited eye diseases

por Méjécase, Cécile, Malka, Samantha, Guan, Zeyu, Slater, Amy, Arno, Gavin, Moosajee, Mariya
Publicado 2020

Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy

por Mahroo, Omar A., Arno, Gavin, Ba-Abbad, Rola, Downes, Susan M., Bird, Alan, Webster, Andrew R.
Publicado 2020

Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients

por de Carvalho, Emanuel R., Robson, Anthony G., Arno, Gavin, Boon, Camiel J.F., Webster, Andrew A., Michaelides, Michel
Publicado 2021

Isolated rod dysfunction associated with a novel genotype of CNGB1

por Ba-Abbad, Rola, Holder, Graham E., Robson, Anthony G., Neveu, Magella M., Waseem, Naushin, Arno, Gavin, Webster, Andrew R.
Publicado 2019

Phenotype-aware prioritisation of rare Mendelian disease variants

por Kelly, Catherine, Szabo, Anita, Pontikos, Nikolas, Arno, Gavin, Robinson, Peter N., Jacobsen, Jules O.B., Smedley, Damian, Cipriani, Valentina
Publicado 2022

Phenogenon: Gene to phenotype associations for rare genetic diseases

por Pontikos, Nikolas, Murphy, Cian, Moghul, Ismail, Arno, Gavin, Fujinami, Kaoru, Fujinami, Yu, Sumodhee, Dayyanah, Downes, Susan, Webster, Andrew, Yu, Jing
Publicado 2020

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

por Ba-Abbad, Rola, Robson, Anthony G., Mahroo, Omar A., Wright, Genevieve, Schiff, Elena, Duignan, Emma S., Michaelides, Michel, Arno, Gavin, Webster, Andrew R.
Publicado 2020

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

por Martin-Gutierrez, Maria Pilar, Schiff, Elena R., Wright, Genevieve, Waseem, Naushin, Mahroo, Omar A., Michaelides, Michel, Moore, Anthony T., Webster, Andrew R., Arno, Gavin
Publicado 2022

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

por Muthiah, Manickam Nick, Kalitzeos, Angelos, Oprych, Kate, Singh, Navjit, Georgiou, Michalis, Wright, Genevieve Ann, Robson, Anthony G, Arno, Gavin, Khan, Kamron, Michaelides, Michel
Publicado 2022

An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank

por Simcoe, Mark J., Arno, Gavin, Hysi, Pirro G., Ko, Tony, Michaelides, Michel, Hammond, Christopher J., Patel, Praveen J., Mahroo, Omar A., Webster, Andrew R.
Publicado 2023

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

por Sheck, Leo H. N., Esposti, Simona D., Mahroo, Omar A., Arno, Gavin, Pontikos, Nikolas, Wright, Genevieve, Webster, Andrew R., Khan, Kamron N., Michaelides, Michel
Publicado 2021

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

por Bouzia, Zaina, Georgiou, Michalis, Hull, Sarah, Robson, Anthony G., Fujinami, Kaoru, Rotsos, Tryfon, Pontikos, Nikolas, Arno, Gavin, Webster, Andrew R., Hardcastle, Alison J., Fiorentino, Alessia, Michaelides, Michel
Publicado 2020

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

por Jurkute, Neringa, D'Esposito, Fabiana, Robson, Anthony G., Pitceathly, Robert D. S., Cordeiro, Francesca, Raymond, F. Lucy, Moore, Anthony T., Michaelides, Michel, Yu-Wai-Man, Patrick, Webster, Andrew R., Arno, Gavin
Publicado 2021

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

por Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Sergouniotis, Panagiotis I., Lenassi, Eva, Thawong, Penpitcha, Danis, Daniel, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Robinson, Peter N., Jacobsen, Julius O.B., Smedley, Damian
Publicado 2020

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

por Cipriani, Valentina, Silva, Raquel S., Arno, Gavin, Pontikos, Nikolas, Kalhoro, Ambreen, Valeina, Sandra, Inashkina, Inna, Audere, Mareta, Rutka, Katrina, Puech, Bernard, Michaelides, Michel, van Heyningen, Veronica, Lace, Baiba, Webster, Andrew R., Moore, Anthony T.
Publicado 2017

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

por Fiorentino, Alessia, Yu, Jing, Arno, Gavin, Pontikos, Nikolas, Halford, Stephanie, Broadgate, Suzanne, Michaelides, Michel, Carss, Keren J., Raymond, F. Lucy, Cheetham, Michael E., Webster, Andrew R., Downes, Susan M., Hardcastle, Alison J.
Publicado 2018

Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography

por Glinton, Sophie L., Calcagni, Antonio, Lilaonitkul, Watjana, Pontikos, Nikolas, Vermeirsch, Sandra, Zhang, Gongyu, Arno, Gavin, Wagner, Siegfried K., Michaelides, Michel, Keane, Pearse A., Webster, Andrew R., Mahroo, Omar A., Robson, Anthony G.
Publicado 2022

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

por Ba-Abbad, Rola, Leys, Monique, Wang, Xinjing, Chakarova, Christina, Waseem, Naushin, Carss, Keren J., Raymond, F. Lucy, Bujakowska, Kinga M., Pierce, Eric A., Mahroo, Omar A., Mohamed, Moin D., Holder, Graham E., Hummel, Marybeth, Arno, Gavin, Webster, Andrew R.
Publicado 2018