GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies
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 in American journal of ophthalmology (01.02.2020)
Published in American journal of ophthalmology (01.02.2020)
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Journal Article
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Pontikos, Nikolas, Arno, Gavin, Jurkute, Neringa, Schiff, Elena, Ba-Abbad, Rola, Malka, Samantha, Gimenez, Ainoa, Georgiou, Michalis, Wright, Genevieve, Armengol, Monica, Knight, Hannah, Katz, Menachem, Moosajee, Mariya, Yu-Wai-Man, Patrick, Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.
Published in Ophthalmology (Rochester, Minn.) (01.10.2020)
Published in Ophthalmology (Rochester, Minn.) (01.10.2020)
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Journal Article
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E, Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R, Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H, Raymond, F Lucy, Carss, Keren J
Published in Genome medicine (07.12.2018)
Published in Genome medicine (07.12.2018)
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Journal Article
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
De Silva, Samantha R., Arno, Gavin, Robson, Anthony G., Fakin, Ana, Pontikos, Nikolas, Mohamed, Moin D., Bird, Alan C., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.
Published in Progress in retinal and eye research (01.05.2021)
Published in Progress in retinal and eye research (01.05.2021)
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Discrepancies in central foveal intensity with different autofluorescence modalities in CNGB3‐associated achromatopsia and correlation with integrity of ellipsoid zone on optical coherence tomography
Akhtar, Haseeb, Lam, Jeffrey, Arno, Gavin, Webster, Andrew R., Michaelides, Michel, Mahroo, Omar
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
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Journal Article
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients
Sallum, Juliana Maria Ferraz, Motta, Fabiana Louise, Arno, Gavin, Porto, Fernanda Belga Ottoni, Resende, Rosane Guazi, Belfort, Rubens
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2020)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2020)
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Journal Article
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
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 in European journal of human genetics : EJHG (01.03.2019)
Published in European journal of human genetics : EJHG (01.03.2019)
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Journal Article
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
de Bruijn, Suzanne E., Fiorentino, Alessia, Ottaviani, Daniele, Fanucchi, Stephanie, Melo, Uirá S., Corral-Serrano, Julio C., Mulders, Timo, Georgiou, Michalis, Rivolta, Carlo, Pontikos, Nikolas, Arno, Gavin, Roberts, Lisa, Greenberg, Jacquie, Albert, Silvia, Gilissen, Christian, Aben, Marco, Rebello, George, Mead, Simon, Raymond, F. Lucy, Corominas, Jordi, Smith, Claire E.L., Kremer, Hannie, Downes, Susan, Black, Graeme C., Webster, Andrew R., Inglehearn, Chris F., van den Born, L. Ingeborgh, Koenekoop, Robert K., Michaelides, Michel, Ramesar, Raj S., Hoyng, Carel B., Mundlos, Stefan, Mhlanga, Musa M., Cremers, Frans P.M., Cheetham, Michael E., Roosing, Susanne, Hardcastle, Alison J.
Published in American journal of human genetics (05.11.2020)
Published in American journal of human genetics (05.11.2020)
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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
Bauwens, Miriam, Garanto, Alejandro, Sangermano, Riccardo, Naessens, Sarah, Weisschuh, Nicole, De Zaeytijd, Julie, Khan, Mubeen, Sadler, Françoise, Balikova, Irina, Van Cauwenbergh, Caroline, Rosseel, Toon, Bauwens, Jim, De Leeneer, Kim, De Jaegere, Sarah, Van Laethem, Thalia, De Vries, Meindert, Carss, Keren, Arno, Gavin, Fakin, Ana, Webster, Andrew R., de Ravel de l’Argentière, Thomy J. L., Sznajer, Yves, Vuylsteke, Marnik, Kohl, Susanne, Wissinger, Bernd, Cherry, Timothy, Collin, Rob W. J., Cremers, Frans P. M., Leroy, Bart P., De Baere, Elfride
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
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Journal Article
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration
Jurkute, Neringa, Leu, Costin, Pogoda, Hans‐Martin, Arno, Gavin, Robson, Anthony G., Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Toliat, Mohammad Reza, Powell, Kate, Höhne, Wolfgang, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Hammerschmidt, Matthias, Nürnberg, Peter, Yu‐Wai‐Man, Patrick, Votruba, Marcela
Published in Annals of neurology (01.09.2019)
Published in Annals of neurology (01.09.2019)
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Journal Article
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa
Muthiah, Manickam Nick, Kalitzeos, Angelos, Oprych, Kate, Singh, Navjit, Georgiou, Michalis, Wright, Genevieve Ann, Robson, Anthony G, Arno, Gavin, Khan, Kamron, Michaelides, Michel
Published in British journal of ophthalmology (01.09.2022)
Published in British journal of ophthalmology (01.09.2022)
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Journal Article
Phenogenon: Gene to phenotype associations for rare genetic diseases
Pontikos, Nikolas, Murphy, Cian, Moghul, Ismail, Arno, Gavin, Fujinami, Kaoru, Fujinami, Yu, Sumodhee, Dayyanah, Downes, Susan, Webster, Andrew, Yu, Jing
Published in PloS one (09.04.2020)
Published in PloS one (09.04.2020)
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Journal Article
Hyperreflectivity of the outer portion of the outer nuclear layer seen on optical coherence tomography in some cases of NR2E3‐associated retinopathy
Fong, Sammi Wing Fai, Arno, Gavin, Webster, Andrew R., Michaelides, Michel, Mahroo, Omar
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
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Journal Article
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card
Yu-Wai-Man, Cynthia, Arno, Gavin, Brookes, John, Garcia-Feijoo, Julian, Khaw, Peng Tee, Moosajee, Mariya
Published in European journal of human genetics : EJHG (01.11.2018)
Published in European journal of human genetics : EJHG (01.11.2018)
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Journal Article
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Ellingford, Jamie M, Horn, Bradley, Campbell, Christopher, Arno, Gavin, Barton, Stephanie, Tate, Catriona, Bhaskar, Sanjeev, Sergouniotis, Panagiotis I, Taylor, Rachel L, Carss, Keren J, Raymond, Lucy F L, Michaelides, Michel, Ramsden, Simon C, Webster, Andrew R, Black, Graeme C M
Published in Journal of medical genetics (01.02.2018)
Published in Journal of medical genetics (01.02.2018)
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Journal Article
Ocular genetics in the genomics age
Walter, Michael A., Rezaie, Tayebeh, Hufnagel, Robert B., Arno, Gavin
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2020)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2020)
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Journal Article
A clinical and molecular characterisation of CRB1-associated maculopathy
Khan, Kamron N, Robson, Anthony, Mahroo, Omar A R, Arno, Gavin, Inglehearn, Chris F, Armengol, Monica, Waseem, Naushin, Holder, Graham E, Carss, Keren J, Raymond, Lucy F, Webster, Andrew R, Moore, Anthony T, McKibbin, Martin, van Genderen, Maria M, Poulter, James A, Michaelides, Michel
Published in European journal of human genetics : EJHG (01.05.2018)
Published in European journal of human genetics : EJHG (01.05.2018)
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