Search Results - Arno, Gavin

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  1. 1
    Letter to the Editor

    Letter to the Editor by Arno, Gavin, Comeglio, Paolo, Child, Anne H

    Published 2010
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  2. 2
    Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance

    Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance by Ellingford, Jamie M., Hufnagel, Robert B., Arno, Gavin

    Published 2020
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  3. 3
    Introduction to the special issue on Ophthalmic Genetics: Vision in 2020

    Introduction to the special issue on Ophthalmic Genetics: Vision in 2020 by Hufnagel, Robert B., Walter, Michael A., Arno, Gavin

    Published 2020
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  4. 4
    The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

    The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye by Lima Cunha, Dulce, Arno, Gavin, Corton, Marta, Moosajee, Mariya

    Published 2019
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  5. 5
    Ocular genetics in the genomics age

    Ocular genetics in the genomics age by Walter, Michael A., Rezaie, Tayebeh, Hufnagel, Robert B., Arno, Gavin

    Published 2020
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  6. 6
    Practical guide to genetic screening for inherited eye diseases

    Practical guide to genetic screening for inherited eye diseases by Méjécase, Cécile, Malka, Samantha, Guan, Zeyu, Slater, Amy, Arno, Gavin, Moosajee, Mariya

    Published 2020
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  7. 7
    A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome

    A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome by Sureka, Dimple, Stheneur, Chantal, Odent, Sylvie, Arno, Gavin, Murphy, Daniel, Bernstein, Jonathan A.

    Published 2014
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  8. 8
    Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card

    Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card by Yu-Wai-Man, Cynthia, Arno, Gavin, Brookes, John, Garcia-Feijoo, Julian, Khaw, Peng Tee, Moosajee, Mariya

    Published 2018
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  9. 9
    Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy

    Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy by Mahroo, Omar A., Arno, Gavin, Ba-Abbad, Rola, Downes, Susan M., Bird, Alan, Webster, Andrew R.

    Published 2020
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  10. 10
    Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa

    Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa by Afshar, Farid, Arno, Gavin, Ba-Abbad, Rola, Esposti, Simona Degli, Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.

    Published 2019
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  11. 11
    Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients

    Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients by de Carvalho, Emanuel R., Robson, Anthony G., Arno, Gavin, Boon, Camiel J.F., Webster, Andrew A., Michaelides, Michel

    Published 2021
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  12. 12
    Isolated rod dysfunction associated with a novel genotype of CNGB1

    Isolated rod dysfunction associated with a novel genotype of CNGB1 by Ba-Abbad, Rola, Holder, Graham E., Robson, Anthony G., Neveu, Magella M., Waseem, Naushin, Arno, Gavin, Webster, Andrew R.

    Published 2019
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  13. 13
    Phenogenon: Gene to phenotype associations for rare genetic diseases

    Phenogenon: Gene to phenotype associations for rare genetic diseases by Pontikos, Nikolas, Murphy, Cian, Moghul, Ismail, Arno, Gavin, Fujinami, Kaoru, Fujinami, Yu, Sumodhee, Dayyanah, Downes, Susan, Webster, Andrew, Yu, Jing

    Published 2020
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  14. 14
    A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

    A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy by Ba-Abbad, Rola, Robson, Anthony G., Mahroo, Omar A., Wright, Genevieve, Schiff, Elena, Duignan, Emma S., Michaelides, Michel, Arno, Gavin, Webster, Andrew R.

    Published 2020
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  15. 15
    Panel‐based genetic testing for inherited retinal disease screening 176 genes

    Panel‐based genetic testing for inherited retinal disease screening 176 genes by Sheck, Leo H. N., Esposti, Simona D., Mahroo, Omar A., Arno, Gavin, Pontikos, Nikolas, Wright, Genevieve, Webster, Andrew R., Khan, Kamron N., Michaelides, Michel

    Published 2021
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  16. 16
    Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

    Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches by Jurkute, Neringa, Majander, Anna, Bowman, Richard, Votruba, Marcela, Abbs, Stephen, Acheson, James, Lenaers, Guy, Amati-Bonneau, Patrizia, Moosajee, Mariya, Arno, Gavin, Yu-Wai-Man, Patrick

    Published 2018
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  17. 17
    GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

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

    Published 2020
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  18. 18
    SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

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

    Published 2021
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  19. 19
    Benign Yellow Dot Maculopathy - a new macular phenotype

    Benign Yellow Dot Maculopathy - a new macular phenotype by Borman, Arundhati Dev, Rachitskaya, Aleksandra, Suzani, Martina, Sisk, Robert A., Ahmed, Zubair M., Holder, Graham E., Cipriani, Valentina, Arno, Gavin, Webster, Andrew R., Hufnagel, Robert B., Berrocal, Audina, Moore, Anthony T.

    Published 2017
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  20. 20
    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

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

    Published 2020
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