Works by Birch, David G.


Results: 49
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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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    Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial.

    Published in:
    2018
    By:
    • Birch, David G.;
    • Bernstein, Paul S.;
    • Iannacone, Alessandro;
    • Pennesi, Mark E.;
    • Lam, Byron L.;
    • Heckenlively, John;
    • Csaky, Karl;
    • Hartnett, Mary Elizabeth;
    • Winthrop, Kevin L.;
    • Jayasundera, Thiran;
    • Hughbanks-Wheaton, Dianna K.;
    • Warner, Judith;
    • Yang, Paul;
    • Fish, Gary Edd;
    • Teske, Michael P.;
    • Sklaver, Neal L.;
    • Erker, Laura;
    • Chegarnov, Elvira;
    • Smith, Travis;
    • Wahle, Aimee
    Publication type:
    journal article
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    Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7.

    Published in:
    2017
    By:
    • Schönbach, Etienne M.;
    • Wolfson, Yulia;
    • Strauss, Rupert W.;
    • Ibrahim, Mohamed A.;
    • Xiangrong Kong;
    • Muñoz, Beatriz;
    • Birch, David G.;
    • Cideciyan, Artur V.;
    • Hahn, Gesa-Astrid;
    • Nittala, Muneeswar;
    • Sunness, Janet S.;
    • Sadda, SriniVas R.;
    • West, Sheila K.;
    • Scholl, Hendrik P. N.;
    • Kong, Xiangrong;
    • ProgStar Study Group
    Publication type:
    journal article
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    Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

    Published in:
    Nature Genetics, 2000, v. 26, n. 3, p. 319, doi. 10.1038/81619
    By:
    • Bech-Hansen, N.Torben;
    • Naylor, Margaret J.;
    • Maybaum, Tracy A.;
    • Sparkes, Rebecca L.;
    • Koop, Ben;
    • Birch, David G.;
    • Bergen, Arthur A.B.;
    • Prinsen, Clemens F.M.;
    • Polomeno, Robert C.;
    • Gal, Andreas;
    • Drack, Arlene V.;
    • Musarella, Maria A.;
    • Jacobson, Samuel G.;
    • Young, Rockefeller S.L.;
    • Weleber, Richard G.
    Publication type:
    Article
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    Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

    Published in:
    Nature Genetics, 2000, v. 24, n. 1, p. 79, doi. 10.1038/71732
    By:
    • Sohocki, Melanie M.;
    • Bowne, Sara J.;
    • Sullivan, Lori S.;
    • Blackshaw, Seth;
    • Cepko, Constance L.;
    • Payne, Annette M.;
    • Bhattacharya, Shomi S.;
    • Khaliq, Shagufta;
    • Qasim Mehdi, S.;
    • Birch, David G.;
    • Harrison, Wilbur R.;
    • Elder, Frederick F.B.;
    • Heckenlively, John R.;
    • Daiger, Stephen P.
    Publication type:
    Article
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    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

    Published in:
    PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0145951
    By:
    • Weisschuh, Nicole;
    • Mayer, Anja K.;
    • Strom, Tim M.;
    • Kohl, Susanne;
    • Glöckle, Nicola;
    • Schubach, Max;
    • Andreasson, Sten;
    • Bernd, Antje;
    • Birch, David G.;
    • Hamel, Christian P.;
    • Heckenlively, John R.;
    • Jacobson, Samuel G.;
    • Kamme, Christina;
    • Kellner, Ulrich;
    • Kunstmann, Erdmute;
    • Maffei, Pietro;
    • Reiff, Charlotte M.;
    • Rohrschneider, Klaus;
    • Rosenberg, Thomas;
    • Rudolph, Günther
    Publication type:
    Article
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    Worldwide Argus II implantation: recommendations to optimize patient outcomes.

    Published in:
    2016
    By:
    • Ghodasra, Devon H.;
    • Chen, Adrienne;
    • Arevalo, J. Fernando;
    • Birch, David G.;
    • Branham, Kari;
    • Coley, Brian;
    • Dagnelie, Gislin;
    • de Juan, Eugene;
    • Devenyi, Robert G.;
    • Dorn, Jessy D.;
    • Fisher, Andy;
    • Geruschat, Duane R.;
    • Gregori, Ninel Z.;
    • Greenberg, Robert J.;
    • Hahn, Paul;
    • Ho, Allen C.;
    • Howson, Ashley;
    • Huang, Suber S.;
    • Iezzi, Raymond;
    • Khan, Naheed
    Publication type:
    journal 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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    Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.

    Published in:
    Ophthalmic Genetics, 2025, v. 46, n. 2, p. 133, doi. 10.1080/13816810.2024.2444619
    By:
    • Uner, Ogul E.;
    • Elsharawi, Radwa;
    • Reynolds, Margaret;
    • Bacci, Giacomo M.;
    • Bargiacchi, Sara;
    • Birch, David G.;
    • Chen, Fred K.;
    • Jain, Nieraj;
    • Heath Jeffery, Rachael C.;
    • Lamey, Tina M.;
    • Mustafi, Debarshi;
    • da Palma, Mariana Matioli;
    • Sallum, Juliana Maria Ferraz;
    • Torres Soto, Mariam;
    • Jones, Kaylie;
    • Yang, Paul;
    • Pennesi, Mark E.;
    • Everett, Lesley A.
    Publication type:
    Article
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    Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

    Published in:
    Human Molecular Genetics, 1999, v. 8, n. 11, p. 2121, doi. 10.1093/hmg/8.11.2121
    By:
    • Bowne, Sara J.;
    • Daiger, Stephen P.;
    • Hims, Matthew M.;
    • Sohocki, Melanie M.;
    • Malone, Kimberly A.;
    • McKie, Arthur B.;
    • Heckenlively, John R.;
    • Birch, David G.;
    • Inglehearn, Chris F.;
    • Bhattacharya, Shomi S.;
    • Bird, Alan;
    • Sullivan, Lori S.
    Publication type:
    Article
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    ApoER2 Function in the Establishment and Maintenance of Retinal Synaptic Connectivity.

    Published in:
    Journal of Neuroscience, 2011, v. 31, n. 40, p. 14413, doi. 10.1523/JNEUROSCI.3135-11.2011
    By:
    • Trotter, Justin H.;
    • Klein, Martin;
    • Jinwal, Umesh K.;
    • Abisambra, Jose F.;
    • Dickey, Chad A.;
    • Tharkur, Jeremy;
    • Masiulis, Irene;
    • Ding, Jindong;
    • Locke, Kirsten G.;
    • Rickman, Catherine Bowes;
    • Birch, David G.;
    • Weeber, Edwin J.;
    • Herz, Joachim
    Publication type:
    Article
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    Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

    Published in:
    Human Mutation, 2001, v. 17, n. 1, p. 42, doi. 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K
    By:
    • Sohocki, Melanie M.;
    • Daiger, Stephen P.;
    • Bowne, Sara J.;
    • Rodriquez, Joseph A.;
    • Northrup, Hope;
    • Heckenlively, John R.;
    • Birch, David G.;
    • Mintz-Hittner, Helen;
    • Ruiz, Richard S.;
    • Lewis, Richard A.;
    • Saperstein, David A.;
    • Sullivan, Lori S.
    Publication type:
    Article
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    Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).

    Published in:
    PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143846
    By:
    • Scholl, Hendrik P. N.;
    • Moore, Anthony T.;
    • Koenekoop, Robert K.;
    • Wen, Yuquan;
    • Fishman, Gerald A.;
    • van den Born, L. Ingeborgh;
    • Bittner, Ava;
    • Bowles, Kristen;
    • Fletcher, Emily C.;
    • Collison, Frederick T.;
    • Dagnelie, Gislin;
    • Degli Eposti, Simona;
    • Michaelides, Michel;
    • Saperstein, David A.;
    • Schuchard, Ronald A.;
    • Barnes, Claire;
    • Zein, Wadih;
    • Zobor, Ditta;
    • Birch, David G.;
    • Mendola, Janine D.
    Publication type:
    Article
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    Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1).

    Published in:
    Ophthalmic Research, 2019, v. 61, n. 1, p. 36, doi. 10.1159/000488711
    By:
    • Strauss, Rupert W.;
    • Kong, Xiangrong;
    • Bittencourt, Millena G.;
    • Ho, Alexander;
    • Jha, Anamika;
    • Schönbach, Etienne M.;
    • Ahmed, Mohamed I.;
    • Muñoz, Beatriz;
    • Ervin, Ann-Margret;
    • Michaelides, Michel;
    • Birch, David G.;
    • Sahel, José-Alain;
    • Sunness, Janet S.;
    • Zrenner, Eberhart;
    • Bagheri, Saghar;
    • Ip, Michael;
    • Sadda, SriniVas;
    • West, Sheila;
    • Scholl, Hendrik P.N.
    Publication type:
    Article
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    Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

    Published in:
    Human Mutation, 2017, v. 38, n. 11, p. 1521, doi. 10.1002/humu.23294
    By:
    • Soens, Zachry T.;
    • Branch, Justin;
    • Wu, Shijing;
    • Yuan, Zhisheng;
    • Li, Yumei;
    • Li, Hui;
    • Wang, Keqing;
    • Xu, Mingchu;
    • Rajan, Lavan;
    • Motta, Fabiana L.;
    • Simões, Renata T.;
    • Lopez‐Solache, Irma;
    • Ajlan, Radwan;
    • Birch, David G.;
    • Zhao, Peiquan;
    • Porto, Fernanda B.;
    • Sallum, Juliana;
    • Koenekoop, Robert K.;
    • Sui, Ruifang;
    • Chen, Rui
    Publication type:
    Article
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    Near-field is nearly here.

    Published in:
    Journal of Telecommunications Management, 2008, v. 1, n. 1, p. 55
    By:
    • Birch, David G. W.
    Publication type:
    Article