Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
Kohl, Susanne, Zobor, Ditta, Chiang, Wei-Chieh, Weisschuh, Nicole, Staller, Jennifer, Menendez, Irene Gonzalez, Chang, Stanley, Beck, Susanne C, Garrido, Marina Garcia, Sothilingam, Vithiyanjali, Seeliger, Mathias W, Stanzial, Franco, Benedicenti, Francesco, Inzana, Francesca, Héon, Elise, Vincent, Ajoy, Beis, Jill, Strom, Tim M, Rudolph, Günther, Roosing, Susanne, Hollander, Anneke I den, Cremers, Frans P M, Lopez, Irma, Ren, Huanan, Moore, Anthony T, Webster, Andrew R, Michaelides, Michel, Koenekoop, Robert K, Zrenner, Eberhart, Kaufman, Randal J, Tsang, Stephen H, Wissinger, Bernd, Lin, Jonathan H
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
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Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial
Koenekoop, Robert K, Prof, Sui, Ruifang, MD, Sallum, Juliana, MD, van den Born, L Ingeborgh, MD, Ajlan, Radwan, MBBCh, Khan, Ayesha, MD, den Hollander, Anneke I, PhD, Cremers, Frans P M, Prof, Mendola, Janine D, PhD, Bittner, Ava K, OD/PhD, Dagnelie, Gislin, PhD, Schuchard, Ronald A, PhD, Saperstein, David A, MD
Published in The Lancet (British edition) (25.10.2014)
Published in The Lancet (British edition) (25.10.2014)
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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
Wang, Xia, Wang, Hui, Sun, Vincent, Tuan, Han-Fang, Keser, Vafa, Wang, Keqing, Ren, Huanan, Lopez, Irma, Zaneveld, Jacques E, Siddiqui, Sorath, Bowles, Stephanie, Khan, Ayesha, Salvo, Jason, Jacobson, Samuel G, Iannaccone, Alessandro, Wang, Feng, Birch, David, Heckenlively, John R, Fishman, Gerald A, Traboulsi, Elias I, Li, Yumei, Wheaton, Dianna, Koenekoop, Robert K, Chen, Rui
Published in Journal of medical genetics (01.10.2013)
Published in Journal of medical genetics (01.10.2013)
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Cumulative Effect of Risk Alleles in CFH , ARMS2 , and VEGFA on the Response to Ranibizumab Treatment in Age-related Macular Degeneration
Smailhodzic, Dzenita, MD, Muether, Philipp S., MD, Chen, John, MD, Kwestro, Angela, MD, Zhang, Alice Yang, MD, Omar, Amer, MD, Van de Ven, Johannes P.H., MD, Keunen, Jan E.E., MD, PhD, Kirchhof, Bernd, MD, PhD, Hoyng, Carel B., MD, PhD, Klevering, B. Jeroen, MD, PhD, Koenekoop, Robert K., MD, PhD, Fauser, Sascha, MD, PhD, den Hollander, Anneke I., PhD
Published in Ophthalmology (Rochester, Minn.) (01.11.2012)
Published in Ophthalmology (Rochester, Minn.) (01.11.2012)
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Journal Article
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi, Elias I, Cheng, Jingliang, Logan, Clare V, McKibbin, Martin, Hayward, Bruce E, Parry, David A, Johnson, Colin A, Nageeb, Mohammed, Poulter, James A, Mohamed, Moin D, Jafri, Hussain, Rashid, Yasmin, Taylor, Graham R, Keser, Vafa, Mardon, Graeme, Xu, Huidan, Inglehearn, Chris F, Fu, Qing, Toomes, Carmel, Chen, Rui
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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Journal Article
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
Nishiguchi, Koji M., Tearle, Richard G., Liu, Yangfan P., Oh, Edwin C., Miyake, Noriko, Benaglio, Paola, Harper, Shyana, Koskiniemi-Kuendig, Hanna, Venturini, Giulia, Sharon, Dror, Koenekoop, Robert K., Nakamura, Makoto, Kondo, Mineo, Ueno, Shinji, Yasuma, Tetsuhiro R., Beckmann, Jacques S., Ikegawa, Shiro, Matsumoto, Naomichi, Terasaki, Hiroko, Berson, Eliot L., Katsanis, Nicholas, Rivolta, Carlo
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.2013)
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Journal Article
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
Ebermann, Inga, Phillips, Jennifer B, Liebau, Max C, Koenekoop, Robert K, Schermer, Bernhard, Lopez, Irma, Schäfer, Ellen, Roux, Anne-Francoise, Dafinger, Claudia, Bernd, Antje, Zrenner, Eberhart, Claustres, Mireille, Blanco, Bernardo, Nürnberg, Gudrun, Nürnberg, Peter, Ruland, Rebecca, Westerfield, Monte, Benzing, Thomas, Bolz, Hanno J
Published in The Journal of clinical investigation (01.06.2010)
Published in The Journal of clinical investigation (01.06.2010)
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Journal Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
Lewis, Richard A, Attié-Bitach, Tania, Beer, Michael A, Inglehearn, Chris F, Katsanis, Nicholas, Waseem, Naushin, Jacobson, Samuel G, Estrada-Cuzcano, Alejandro, MacDonald, Ian, Wheeler, David A, Koenekoop, Robert K, Tan, Perciliz L, Othman, Mohammad I, Khanna, Hemant, Lopez, Irma, Muzny, Donna M, Swaroop, Anand, Lewis, Lora R, Bhattacharya, Shomi S, Diaz-Font, Anna, Maubaret, Cecilia, Gibbs, Richard A, Morgan, Margaret, Otto, Edgar A, Murga-Zamalloa, Carlos A, Chakarova, Christina F, Beales, Philip L, Zonneveld, Marijke N, Hildebrandt, Friedhelm, Davis, Erica E, Bergmann, Carsten, Johnson, Colin A, Logan, Clare V, den Hollander, Anneke I
Published in Nature genetics (01.06.2009)
Published in Nature genetics (01.06.2009)
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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)
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, Zrenner, Eberhart
Published in PloS one (10.12.2015)
Published in PloS one (10.12.2015)
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Journal Article
Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
den Hollander, Anneke I., Koenekoop, Robert K., Yzer, Suzanne, Lopez, Irma, Arends, Maarten L., Voesenek, Krysta E.J., Zonneveld, Marijke N., Strom, Tim M., Meitinger, Thomas, Brunner, Han G., Hoyng, Carel B., van den Born, L. Ingeborgh, Rohrschneider, Klaus, Cremers, Frans P.M.
Published in American journal of human genetics (01.09.2006)
Published in American journal of human genetics (01.09.2006)
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Journal Article
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
den Hollander, Anneke I, Dallapiccola, Bruno, Ayuso, Carmen, Caridi, Gianluca, Brancati, Francesco, Kispert, Andreas, Gudiseva, Harini V, Louie, Carrie M, Koenekoop, Robert K, Ayyagari, Radha, Leitges, Michael, Lopez, Irma, Vallespin, Elena, Otto, Edgar A, Williams, David S, Lopes, Vanda S, Valente, Enza Maria, Gleeson, Joseph G, Lancaster, Madeline A, Cremers, Frans P M, Hildebrandt, Friedhelm, O'Toole, John F, Gröne, Hermann-Josef, Ghiggeri, Gian Marco, Schlossman, Andrew M
Published in Nature genetics (01.02.2010)
Published in Nature genetics (01.02.2010)
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Journal Article
Mutations in MFSD8 , Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy
Roosing, Susanne, PhD, van den Born, L. Ingeborgh, MD, PhD, Sangermano, Riccardo, MSc, Banfi, Sandro, MD, PhD, Koenekoop, Robert K., MD, PhD, Zonneveld-Vrieling, Marijke N., BSc, Klaver, Caroline C.W., MD, PhD, van Lith-Verhoeven, Janneke J.C., MD, PhD, Cremers, Frans P.M., PhD, den Hollander, Anneke I., PhD, Hoyng, Carel B., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (2015)
Published in Ophthalmology (Rochester, Minn.) (2015)
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Journal Article
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1
Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui
Published in Genetics in medicine (01.10.2016)
Published in Genetics in medicine (01.10.2016)
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Journal Article
GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness
Peachey, Neal S., Ray, Thomas A., Florijn, Ralph, Rowe, Lucy B., Sjoerdsma, Trijntje, Contreras-Alcantara, Susana, Baba, Kenkichi, Tosini, Gianluca, Pozdeyev, Nikita, Iuvone, P. Michael, Bojang, Pasano, Pearring, Jillian N., Simonsz, Huibert Jan, van Genderen, Maria, Birch, David G., Traboulsi, Elias I., Dorfman, Allison, Lopez, Irma, Ren, Huanan, Goldberg, Andrew F.X., Nishina, Patsy M., Lachapelle, Pierre, McCall, Maureen A., Koenekoop, Robert K., Bergen, Arthur A.B., Kamermans, Maarten, Gregg, Ronald G.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
Manes, Gaël, Meunier, Isabelle, Avila-Fernández, Almudena, Banfi, Sandro, Le Meur, Guylène, Zanlonghi, Xavier, Corton, Marta, Simonelli, Francesca, Brabet, Philippe, Labesse, Gilles, Audo, Isabelle, Mohand-Said, Saddek, Zeitz, Christina, Sahel, José-Alain, Weber, Michel, Dollfus, Hélène, Dhaenens, Claire-Marie, Allorge, Delphine, De Baere, Elfride, Koenekoop, Robert K., Kohl, Susanne, Cremers, Frans P.M., Hollyfield, Joe G., Sénéchal, Audrey, Hebrard, Maxime, Bocquet, Béatrice, Ayuso García, Carmen, Hamel, Christian P.
Published in American journal of human genetics (05.09.2013)
Published in American journal of human genetics (05.09.2013)
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Journal Article
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons
McEwen, Dyke P, Koenekoop, Robert K, Khanna, Hemant, Jenkins, Paul M, Lopez, Irma, Swaroop, Anand, Martens, Jeffrey R
Published in Proceedings of the National Academy of Sciences - PNAS (02.10.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (02.10.2007)
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Journal Article
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
Boldt, Karsten, Mans, Dorus A, Won, Jungyeon, van Reeuwijk, Jeroen, Vogt, Andreas, Kinkl, Norbert, Letteboer, Stef J F, Hicks, Wanda L, Hurd, Ron E, Naggert, Jürgen K, Texier, Yves, den Hollander, Anneke I, Koenekoop, Robert K, Bennett, Jean, Cremers, Frans P M, Gloeckner, Christian J, Nishina, Patsy M, Roepman, Ronald, Ueffing, Marius
Published in The Journal of clinical investigation (01.06.2011)
Published in The Journal of clinical investigation (01.06.2011)
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Journal Article
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa
Sullivan, Lori S, Koboldt, Daniel C, Bowne, Sara J, Lang, Steven, Blanton, Susan H, Cadena, Elizabeth, Avery, Cheryl E, Lewis, Richard A, Webb-Jones, Kaylie, Wheaton, Dianna H, Birch, David G, Coussa, Razck, Ren, Huanan, Lopez, Irma, Chakarova, Christina, Koenekoop, Robert K, Garcia, Charles A, Fulton, Robert S, Wilson, Richard K, Weinstock, George M, Daiger, Stephen P
Published in Investigative ophthalmology & visual science (04.09.2014)
Published in Investigative ophthalmology & visual science (04.09.2014)
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Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies
Asai-Coakwell, Mika, March, Lindsey, Dai, Xiao Hua, Duval, Michele, Lopez, Irma, French, Curtis R, Famulski, Jakub, De Baere, Elfride, Francis, Peter J, Sundaresan, Periasamy, Sauvé, Yves, Koenekoop, Robert K, Berry, Fred B, Allison, W Ted, Waskiewicz, Andrew J, Lehmann, Ordan J
Published in Human molecular genetics (01.04.2013)
Published in Human molecular genetics (01.04.2013)
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