Works by Michaelides, Michel


Results: 112
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    Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

    Published in:
    JAMA Ophthalmology, 2024, v. 142, n. 5, p. 463, doi. 10.1001/jamaophthalmol.2024.0660
    By:
    • Cornelis, Stéphanie S.;
    • IntHout, Joanna;
    • Runhart, Esmee H.;
    • Grunewald, Olivier;
    • Lin, Siying;
    • Corradi, Zelia;
    • Khan, Mubeen;
    • Hitti-Malin, Rebekkah J.;
    • Whelan, Laura;
    • Farrar, G. Jane;
    • Sharon, Dror;
    • van den Born, L. Ingeborgh;
    • Arno, Gavin;
    • Simcoe, Mark;
    • Michaelides, Michel;
    • Webster, Andrew R.;
    • Roosing, Susanne;
    • Mahroo, Omar A.;
    • Dhaenens, Claire-Marie;
    • Cremers, Frans P. M.
    Publication type:
    Article
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    Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11.

    Published in:
    JAMA Ophthalmology, 2019, v. 137, n. 10, p. 1134, doi. 10.1001/jamaophthalmol.2019.2885
    By:
    • Strauss, Rupert W.;
    • Kong, Xiangrong;
    • Ho, Alexander;
    • Jha, Anamika;
    • West, Sheila;
    • Ip, Michael;
    • Bernstein, Paul S.;
    • Birch, David G.;
    • Cideciyan, Artur V.;
    • Michaelides, Michel;
    • Sahel, José-Alain;
    • Sunness, Janet S.;
    • Traboulsi, Elias I.;
    • Zrenner, Eberhart;
    • Pitetta, Sean;
    • Jenkins, Dennis;
    • Hariri, Amir Hossein;
    • Sadda, SriniVas;
    • Scholl, Hendrik P. N.
    Publication type:
    Article
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    Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11.

    Published in:
    2019
    By:
    • Strauss, Rupert W;
    • Kong, Xiangrong;
    • Ho, Alexander;
    • Jha, Anamika;
    • West, Sheila;
    • Ip, Michael;
    • Bernstein, Paul S;
    • Birch, David G;
    • Cideciyan, Artur V;
    • Michaelides, Michel;
    • Sahel, José-Alain;
    • Sunness, Janet S;
    • Traboulsi, Elias I;
    • Zrenner, Eberhart;
    • Pitetta, Sean;
    • Jenkins, Dennis;
    • Hariri, Amir Hossein;
    • Sadda, SriniVas;
    • Scholl, Hendrik P N;
    • ProgStar Study Group
    Publication type:
    journal article
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    Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

    Published in:
    2017
    By:
    • Taylor, Rachel L.;
    • Arno, Gavin;
    • Poulter, James A.;
    • Khan, Kamron N.;
    • Morarji, Jiten;
    • Hull, Sarah;
    • Pontikos, Nikolas;
    • Martin, Antonio Rueda;
    • Smith, Katherine R.;
    • Ali, Manir;
    • Toomes, Carmel;
    • McKibbin, Martin;
    • Clayton-Smith, Jill;
    • Grunewald, Stephanie;
    • Michaelides, Michel;
    • Moore, Anthony T.;
    • Hardcastle, Alison J.;
    • Inglehearn, Chris F.;
    • Webster, Andrew R.;
    • Black, Graeme C.
    Publication type:
    journal article
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    Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

    Published in:
    2016
    By:
    • Arno, Gavin;
    • Holder, Graham E.;
    • Chakarova, Christina;
    • Kohl, Susanne;
    • Pontikos, Nikolas;
    • Fiorentino, Alessia;
    • Plagnol, Vincent;
    • Cheetham, Michael E.;
    • Hardcastle, Alison J.;
    • Webster, Andrew R.;
    • Michaelides, Michel;
    • UK Inherited Retinal Disease Consortium
    Publication type:
    journal article
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    Molecular and Clinical Findings in Patients With Knobloch Syndrome.

    Published in:
    2016
    By:
    • Hull, Sarah;
    • Arno, Gavin;
    • Ku, Cristy A.;
    • Zhongqi Ge;
    • Waseem, Naushin;
    • Chandra, Aman;
    • Webster, Andrew R.;
    • Robson, Anthony G.;
    • Michaelides, Michel;
    • Weleber, Richard G.;
    • Davagnanam, Indran;
    • Rui Chen;
    • Holder, Graham E.;
    • Pennesi, Mark E.;
    • Moore, Anthony T.;
    • Ge, Zhongqi;
    • Chen, Rui
    Publication type:
    journal article
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    Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing.

    Published in:
    Cells (2073-4409), 2024, v. 13, n. 15, p. 1261, doi. 10.3390/cells13151261
    By:
    • Chandrasekhar, Shwetha;
    • Lin, Siying;
    • Jurkute, Neringa;
    • Oprych, Kathryn;
    • Estramiana Elorrieta, Leire;
    • Schiff, Elena;
    • Malka, Samantha;
    • Wright, Genevieve;
    • Michaelides, Michel;
    • Mahroo, Omar A.;
    • Webster, Andrew R.;
    • Arno, Gavin
    Publication type:
    Article
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    Retinal gene therapy.

    Published in:
    British Medical Bulletin, 2018, v. 126, n. 1, p. 13, doi. 10.1093/bmb/ldy005
    By:
    • Kumaran, Neruban;
    • Michaelides, Michel;
    • Smith, Alexander J.;
    • Ali, Robin R.;
    • Bainbridge, James W. B.
    Publication type:
    Article
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    Eye2Gene.

    Published in:
    2022
    By:
    • Pontikos, Nikolas;
    • Woof, William;
    • de Guimarães, Thales Antonio Cabral;
    • Varela, Malena Daich;
    • Al‐Khuzaei, Saoud;
    • Sen, Sagnik;
    • Liu, Yichen;
    • Liefers, Bart;
    • Furman, Jennifer;
    • Balaskas, Konstantinos;
    • Michaelides, Michel
    Publication type:
    Abstract
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    Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

    Published in:
    Acta Ophthalmologica (1755375X), 2021, v. 99, n. 1, p. 61, doi. 10.1111/aos.14478
    By:
    • Kousal, Bohdan;
    • Majer, Filip;
    • Vlaskova, Hana;
    • Dvorakova, Lenka;
    • Piherova, Lenka;
    • Meliska, Martin;
    • Langrova, Hana;
    • Palecek, Tomas;
    • Kubanek, Milos;
    • Krebsova, Alice;
    • Gurka, Jiri;
    • Stara, Veronika;
    • Michaelides, Michel;
    • Kalina, Tomas;
    • Sikora, Jakub;
    • Liskova, Petra
    Publication type:
    Article
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    Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 4, p. 595, doi. 10.1093/hmg/ddac227
    By:
    • Varela, Malena Daich;
    • Bellingham, James;
    • Motta, Fabiana;
    • Jurkute, Neringa;
    • Ellingford, Jamie M;
    • Quinodoz, Mathieu;
    • Oprych, Kathryn;
    • Niblock, Michael;
    • Janeschitz-Kriegl, Lucas;
    • Kaminska, Karolina;
    • Cancellieri, Francesca;
    • Scholl, Hendrik P N;
    • Lenassi, Eva;
    • Schiff, Elena;
    • Knight, Hannah;
    • Black, Graeme;
    • Rivolta, Carlo;
    • Cheetham, Michael E;
    • Michaelides, Michel;
    • Mahroo, Omar A
    Publication type:
    Article
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    large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 8, p. 1263, doi. 10.1093/hmg/ddab316
    By:
    • Occelli, Laurence M;
    • Daruwalla, Anahita;
    • Silva, Samantha R De;
    • Winkler, Paige A;
    • Sun, Kelian;
    • Pasmanter, Nathaniel;
    • Minella, Andrea;
    • Querubin, Janice;
    • Lyons, Leslie A;
    • Consortium, 99 Lives;
    • Robson, Anthony G;
    • Heon, Elise;
    • Michaelides, Michel;
    • Webster, Andrew R;
    • Palczewski, Krzysztof;
    • Vincent, Ajoy;
    • Mahroo, Omar A;
    • Kiser, Philip D;
    • Petersen-Jones, Simon M
    Publication type:
    Article
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    Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

    Published in:
    Nature Genetics, 2015, v. 47, n. 7, p. 757, doi. 10.1038/ng.3319
    By:
    • Kohl, Susanne;
    • Zobor, Ditta;
    • Weisschuh, Nicole;
    • Staller, Jennifer;
    • Menendez, Irene Gonzalez;
    • Beck, Susanne C;
    • Garrido, Marina Garcia;
    • Sothilingam, Vithiyanjali;
    • Seeliger, Mathias W;
    • Wissinger, Bernd;
    • Hollander, Anneke I den;
    • Lopez, Irma;
    • Ren, Huanan;
    • Koenekoop, Robert K;
    • Moore, Anthony T;
    • Webster, Andrew R;
    • Michaelides, Michel;
    • Zrenner, Eberhart;
    • Kaufman, Randal J;
    • Tsang, Stephen H
    Publication type:
    Article
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    RNA-based therapies in inherited retinal diseases.

    Published in:
    Therapeutic Advances in Ophthalmology, 2022, p. 1, doi. 10.1177/25158414221134602
    By:
    • Girach, Aniz;
    • Audo, Isabelle;
    • Birch, David G.;
    • Huckfeldt, Rachel M.;
    • Lam, Byron L.;
    • Leroy, Bart P.;
    • Michaelides, Michel;
    • Russell, Stephen R.;
    • Sallum, Juliana M.F.;
    • Stingl, Katarina;
    • Tsang, Stephen H.;
    • Yang, Paul
    Publication type:
    Article
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    RNA-based therapies in inherited retinal diseases.

    Published in:
    Therapeutic Advances in Ophthalmology, 2022, v. 14, p. 1, doi. 10.1177/25158414221134602
    By:
    • Girach, Aniz;
    • Audo, Isabelle;
    • Birch, David G.;
    • Huckfeldt, Rachel M.;
    • Lam, Byron L.;
    • Leroy, Bart P.;
    • Michaelides, Michel;
    • Russell, Stephen R.;
    • Sallum, Juliana M. F.;
    • Stingl, Katarina;
    • Tsang, Stephen H.;
    • Yang, Paul
    Publication type:
    Article
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