The Relationship Between Cognitive Status and Known Single Nucleotide Polymorphisms in Age-Related Macular Degeneration

por Murphy, Caitlin, Johnson, Aaron P., Koenekoop, Robert K., Seiple, William, Overbury, Olga
Publicado 2020

CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia

por Badeeb, Osama M, Micheal, Shazia, Koenekoop, Robert K, den Hollander, Anneke I, Hedrawi, Manal T
Publicado 2014

Tear Film Cytokine Profile of Patients With the Boston Keratoprosthesis Type 1: Comparing Patients With and Without Glaucoma

por Geoffrion, Dominique, Robert, Marie-Claude, Di Polo, Adriana, Koenekoop, Robert K., Agoumi, Younes, Harissi-Dagher, Mona
Publicado 2021

Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response

por Tremblay, Nicolas, Baril, Martin, Chatel-Chaix, Laurent, Es-Saad, Salwa, Park, Alex Young, Koenekoop, Robert K., Lamarre, Daniel
Publicado 2016

Correction: Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response

por Tremblay, Nicolas, Baril, Martin, Chatel-Chaix, Laurent, Es-Saad, Salwa, Park, Alex Young, Koenekoop, Robert K., Lamarre, Daniel
Publicado 2017

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies

por Barnes, Claire S., Schuchard, Ronald A., Birch, David G., Dagnelie, Gislin, Wood, Leah, Koenekoop, Robert K., Bittner, Ava K.
Publicado 2019

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

por Keser, Vafa, Khan, Ayesha, Siddiqui, Sorath, Lopez, Irma, Ren, Huanan, Qamar, Raheel, Nadaf, Javad, Majewski, Jacek, Chen, Rui, Koenekoop, Robert K.
Publicado 2017

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa

por Kiang, Anna-Sophia, Kenna, Paul F., Humphries, Marian M., Ozaki, Ema, Koenekoop, Robert K., Campbell, Matthew, Farrar, G. Jane, Humphries, Pete
Publicado 2020

LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review

por Leroy, Bart P., Birch, David G., Duncan, Jacque L., Lam, Byron L., Koenekoop, Robert K., Porto, Fernanda B. O., Russell, Stephen R., Girach, Aniz
Publicado 2021

Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1

por 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
Publicado 2016

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

por Yzer, Suzanne, den Hollander, Anneke I., Lopez, Irma, Pott, Jan-Willem R., de Faber, Jan Tjeerd H.N., Cremers, Frans P.M., Koenekoop, Robert K., van den Born, L. Ingeborgh
Publicado 2012

Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations

por Zou, Gang, Zhang, Tao, Cheng, Xuesen, Igelman, Austin D., Wang, Jun, Qian, Xinye, Fu, Shangyi, Wang, Keqing, Koenekoop, Robert K., Fishman, Gerald A., Yang, Paul, Li, Yumei, Pennesi, Mark E., Chen, Rui
Publicado 2021

A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration

por Lorés-Motta, Laura, van Asten, Freekje, Muether, Philipp S., Smailhodzic, Dzenita, Groenewoud, Joannes M., Omar, Amer, Chen, John, Koenekoop, Robert K., Fauser, Sascha, Hoyng, Carel B., den Hollander, Anneke I., de Jong, Eiko K.
Publicado 2016

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

por Astuti, Galuh D N, Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P, Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W J, Koenekoop, Robert K
Publicado 2015

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

por Langouët, Maéva, Jolicoeur, Christine, Javed, Awais, Mattar, Pierre, Gearhart, Micah D., Daiger, Stephen P., Bertelsen, Mette, Tranebjærg, Lisbeth, Rendtorff, Nanna D., Grønskov, Karen, Jespersgaard, Catherine, Chen, Rui, Sun, Zixi, Li, Hui, Alirezaie, Najmeh, Majewski, Jacek, Bardwell, Vivian J., Sui, Ruifang, Koenekoop, Robert K., Cayouette, Michel
Publicado 2022

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 Acylt...

por 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
Publicado 2015

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

por Riaz, Moeen, Lorés-Motta, Laura, Richardson, Andrea J., Lu, Yi, Montgomery, Grant, Omar, Amer, Koenekoop, Robert K., Chen, John, Muether, Philipp, Altay, Lebriz, Schick, Tina, Fauser, Sascha, Smailhodzic, Dzenita, van Asten, Freekje, de Jong, Eiko K., Hoyng, Carel B., Burdon, Kathryn P., MacGregor, Stuart, Guymer, Robyn H., den Hollander, Anneke I., Baird, Paul N.
Publicado 2016

AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis

por Louie, Carrie M, Caridi, Gianluca, Lopes, Vanda S, Brancati, Francesco, Kispert, Andreas, Lancaster, Madeline A, Schlossman, Andrew M, Otto, Edgar A, Leitges, Michael, Groene, Hermann-Josef, Lopez, Irma, Gudiseva, Harini V, O’Toole, John F, Vallespin, Elena, Ayyagari, Radha, Ayuso, Carmen, Cremers, Frans P, den Hollander, Anneke I, Koenekoop, Robert K, Dallapiccola, Bruno, Ghiggeri, Gian Marco, Hildebrandt, Friedhelm, Valente, Enza Maria, Williams, David S, Gleeson, Joseph G
Publicado 2010

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

por da Palma, Mariana Matioli, Igelman, Austin D., Ku, Cristy, Burr, Amanda, You, Jia Yue, Place, Emily M., Wang, Nan-Kai, Oh, Jin Kyun, Branham, Kari E., Zhang, Xinxin, Ahn, Jeeyun, Gorin, Michael B., Lam, Byron L., Ronquillo, Cecinio C., Bernstein, Paul S., Nagiel, Aaron, Huckfeldt, Rachel, Cabrera, Michelle T., Kelly, John P., Bakall, Benjamin, Iannaccone, Alessandro, Hufnagel, Robert B., Zein, Wadih M., Koenekoop, Robert K., Birch, David G., Yang, Paul, Fahim, Abigail T., Pennesi, Mark E.
Publicado 2021

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

por Perrault, Isabelle, Estrada-Cuzcano, Alejandro, Lopez, Irma, Kohl, Susanne, Li, Shiqiang, Testa, Francesco, Zekveld-Vroon, Renate, Wang, Xia, Pomares, Esther, Andorf, Jean, Aboussair, Nisrine, Banfi, Sandro, Delphin, Nathalie, den Hollander, Anneke I., Edelson, Catherine, Florijn, Ralph, Jean-Pierre, Marc, Leowski, Corinne, Megarbane, Andre, Villanueva, Cristina, Flores, Blanca, Munnich, Arnold, Ren, Huanan, Zobor, Ditta, Bergen, Arthur, Chen, Rui, Cremers, Frans P. M., Gonzalez-Duarte, Roser, Koenekoop, Robert K., Simonelli, Francesca, Stone, Edwin, Wissinger, Bernd, Zhang, Qingjiong, Kaplan, Josseline, Rozet, Jean-Michel
Publicado 2013