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Genome Research, ISSN 1088-9051, 2001, Volume 11, Issue 7, pp. 1156 - 1166
Journal Article
by Fritsche, Lars G and Igl, Wilmar and Bailey, Jessica N. Cooke and Grassmann, Felix and Sengupta, Sebanti and Bragg-Gresham, Jennifer L and Burdon, Kathryn and Hebbring, Scott J and Wen, Cindy and Gorski, Mathias and Kim, Ivana K and Cho, David and Zack, Donald and Souied, Eric and Scholl, Henik and Bala, Elisa and ELee, Kristine and Hunter, David J and Sardell, Rebecca J and Mitchell, Paul and Merriam, Joanna E and Cipriani, Francesco and Hoffman, Joshua D and Schick, Tina and Lechanteur, Yara T.E and Guymer, Robyn and Johnson, Matthew and Jiang, Yingda and Stanton, Chloe M and Buitendijk, Gabrielle and Zhan, Xiaowei and Kwong, Alan M and Boleda, Alexis and Brooks, Matthew and Gieser, Linn and Ratna Priya, Rinki and Branham, Kari E and Foerster, Johanna R and Heckenlively, John R and Othman, Mohammad I and Vote, Brendan J and Liang, Helena Hai and Souzeau, Emmanuelle and McAllister, Ian L and Isaacs, Timothy and Hall, Janette and Lake, Stewart and Mackey, David A and Constable, Ian J and Craig, Jamie E and Kitchner, Terrie E and Yang, Zhenglin and Su, Zhiguang and Luo, Hongrong and Chen, Daniel and Ouyang, Hong and Flagg, Ken and Lin, Danni and Mao, Guanping and Ferreyra, Henry and Stark, Klaus and Strachwitz, Claudia and Wolf, Armin and Brandl, Caroline and Rudolph, Guenther and Olden, Matthias and Morrison, Margaux A and Morgan, Denise and Schu, Matthew and Ahn, Jeeyun and Silvestri, Giuliana and ETsironi, Evangelia and Park, Kyu Hyung and Farrer, Lindsay and Orlin, Anton and Brucker, Alexander and Li, Mingyao and Curcio, Christine A and Mohand-Sa'd, Saddek and Sahel, José-Alain and Audo, Isabelle and Benchaboune, Mustapha and Cree, Angela and Rennie, Christina A and Goverdhan, Srinivas V and Grunin, Michelle and Hagbi-Levi, Shira and Campochiaro, Peter and Katsanis, Nicholas and Holz, Frank G and Blond, Frédéric and Blanché, Hél'ne and Deleuze, Jean-Fran'ois and Igo Jr., Robert and Truitt, Barbara and Peachey, Neal S and Meuer, Stacy M and Myers, Chelsea E and Moore, Emily L and Klein, Ronald and ...
Nature Genetics, ISSN 1061-4036, 02/2016, Volume 48, Issue 2, pp. 134 - 143
Journal Article
by Fritsche, Lars G and Chen, Wei and Schu, Matthew and Yaspan, Brian L and Yu, Yi and Thorleifsson, Gudmar and Zack, Donald J and Arakawa, Satoshi and Cipriani, Valentina and Ripke, Stephan and Igo, Robert P and Buitendijk, Gabriëlle H. S and Sim, Xueling and Weeks, Daniel E and Guymer, Robyn H and Merriam, Joanna E and Francis, Peter J and Hannum, Gregory and Agarwal, Anita and Armbrecht, Ana Maria and Audo, Isabelle and Aung, Tin and Barile, Gaetano R and Benchaboune, Mustapha and Bird, Alan C and Bishop, Paul N and Branham, Kari E and Brooks, Matthew and Brucker, Alexander J and Cade, William H and Cain, Melinda S and Campochiaro, Peter A and Chan, Chi-Chao and Cheng, Ching-Yu and Chew, Emily Y and Chin, Kimberly A and Chowers, Itay and Clayton, David G and Cojocaru, Radu and Conley, Yvette P and Cornes, Belinda K and Daly, Mark J and Dhillon, Baljean and Edwards, Albert O and Evangelou, Evangelos and Fagerness, Jesen and Ferreyra, Henry A and Friedman, James S and Geirsdottir, Asbjorg and George, Ronnie J and Gieger, Christian and Gupta, Neel and Hagstrom, Stephanie A and Harding, Simon P and Haritoglou, Christos and Heckenlively, John R and Holz, Frank G and Hughes, Guy and Ioannidis, John P. A and Ishibashi, Tatsuro and Joseph, Peronne and Jun, Gyungah and Kamatani, Yoichiro and Katsanis, Nicholas and N Keilhauer, Claudia and Khan, Jane C and Kim, Ivana K and Kiyohara, Yutaka and Klein, Barbara E. K and Klein, Ronald and Kovach, Jaclyn L and Kozak, Igor and Lee, Clara J and Lee, Kristine E and Lichtner, Peter and Lotery, Andrew J and Meitinger, Thomas and Mitchell, Paul and Mohand-Saïd, Saddek and Moore, Anthony T and Morgan, Denise J and Morrison, Margaux A and Myers, Chelsea E and Naj, Adam C and Nakamura, Yusuke and Okada, Yukinori and Orlin, Anton and Ortube, M Carolina and Othman, Mohammad I and Pappas, Chris and Park, Kyu Hyung and Pauer, Gayle J. T and Peachey, Neal S and Poch, Olivier and Priya, Rinki Ratna and Reynolds, Robyn and Richardson, Andrea J and Ripp, Raymond and Rudolph, Guenther and Ryu, Euijung and ... and AMD Gene Consortium and The AMD Gene Consortium
Nature Genetics, ISSN 1061-4036, 04/2013, Volume 45, Issue 4, pp. 433 - 439
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 11/2018, Volume 195, pp. 16 - 25
To describe a distinct phenotypic outcome of outer retinal degeneration in a cohort of genetically confirmed patients with recessive Stargardt disease (STGD1).... 
ALPHA-SUBUNIT | OPTICAL COHERENCE TOMOGRAPHY | RECESSIVE RETINITIS-PIGMENTOSA | CHOROIDEREMIA CHM | OPHTHALMOLOGY | TERM-FOLLOW-UP | GENE ABCR | NATURAL-HISTORY | RETINAL-PIGMENT EPITHELIUM | OCCULT MACULAR DYSTROPHY | RP1L1 VARIANTS | Fluorescence | Medicine, Experimental | Medical research | Development and progression | Genetic disorders | Cells | Medical imaging | Mutation | Patients | Age
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2010, Volume 107, Issue 16, pp. 7395 - 7400
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 01/2013, Volume 54, Issue 1, p. 521
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2017, Volume 54, Issue 6, pp. 404 - 412
Background Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to... 
RETINOPATHIES | VARIANTS | CONE-ROD DYSTROPHY | GENETICS & HEREDITY | FUNCTIONAL-ANALYSIS | GENE ABCR | PHENOTYPES | MUTATIONS | RETINITIS-PIGMENTOSA | ASSOCIATION | STARGARDT-DISEASE | Allelomorphism | Macular degeneration | Retinal degeneration | Research | Retinal diseases | Analysis | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2005, Volume 102, Issue 20, pp. 7227 - 7232
Journal Article