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Variants in CFAP410 cause a range of retinal and skeletal phenotypes Schmidt, Ryan E.; Pohodich, Amy E.; Birch, David; Jones, Kaylie; Lam, Byron L.; Jung, Emily H.; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A.; Webster, Andrew R.; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C.; Heon, Elise; Scholl, Hendrik P. N.; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I.; Zein, Wadih; Brooks, Brian P.; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S.; Sylla, Mohamed M.; Tsang, Stephen H.; Alabek, Michelle; Sahel, Jose; Gorin, Michael B.; van Genderen, Maria M.; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L.; Hull, Sarah; Duncan, Jacque L.; Hanson, James V. M.; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A.; Yang, Paul; Pennesi, Mark E. Share Save
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel van der Ende, Sarah; Bedard, Karen; Wallace, Karin; Mackley, Michael P.; Nightingale, Mathew; Gaston, Daniel; Beis, M. Jill; Leblanc, Marissa A.; Gillett, Roxanne; V. Levin, Alex; Clark, Ian H.; Heon, Elise; Muni, Rajeev H.; Traboulsi, Elias I.; Lyons, Christopher J.; Mcmaster, Christopher R.; Robitaille, Johane M.; FEVR Consortium Share Save
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Complications, Visual Acuity, and Refractive Error 3 Years after Secondary Intraocular Lens Implantation for Pediatric Aphakia Wang, Serena; Repka, Michael X.; Sutherland, Desirae R.; Hatt, Sarah R.; Traboulsi, Elias I.; Lambert, Scott R.; Melia, B. Michele; Kraker, Raymond T.; Holmes, Jonathan M.; Cotter, Susan A. Share Save
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A.; Sergeev, Yuri, V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J.; Prasov, Lev; Shi, Ruifang; Dollfus, Helene; Aristodemou, Petros; Laich, Yannik; Nemeth, Andrea H.; Taylor, John; Downes, Susan; Krawczynski, Maciej R.; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A.; Moore, Anthony T.; Duncan, Jacque L.; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L.; Siskind, Carly E.; Traboulsi, Elias, I; Blackstone, Craig; Sisk, Robert A.; Utz, Virginia Miraldi; Webster, Andrew R.; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B. Share Save
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Effective gene therapy of Stargardt disease with PEG-ECO/pGRK1-ABCA4-S/MAR nanoparticles Sun, Da; Sun, Wenyu; Gao, Song-Qi; Lehrer, Jonathan; Naderi, Amirreza; Wei, Cheng; Lee, Sangjoon; Schilb, Andrew L.; Scheidt, Josef; Hall, Ryan C.; Traboulsi, Elias I.; Palczewski, Krzysztof; Lu, Zheng-Rong Share Save
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy Wissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur, V; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias, I; Hardcastle, Alison J.; Gardner, Jessica C.; Michaelides, Michel; Branham, Kari E.; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Helene; Birch, David; Vincent, Andrea L.; Martorell, Loreto; Mora, Jaume Catala; Kellner, Ulrich; Ruther, Klaus; Lorenz, Birgit; Preising, Markus N.; Manfredini, Emanuela; Zarate, Yuri A.; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G.; Kohl, Susanne Share Save
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias, I; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne Share Save
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Outcomes of Bilateral Cataract Surgery in Infants 7 to 24 Months of Age Using the Toddler Aphakia and Pseudophakia Treatment Study Registry Bothun, Erick D.; Wilson, M. Edward; Yen, Kimberly G.; Anderson, Jill S.; Weil, Natalie C.; Loh, Allison R.; Morrison, David; Freedman, Sharon F.; Plager, David A.; Vanderveen, Deborah K.; Traboulsi, Elias, I; Hodge, David O.; Lambert, Scott R. Share Save
Recurrent Rare Copy Number Variants Increase Risk for Esotropia Whitman, Mary C.; Di Gioia, Silvio Alessandro; Chan, Wai-Man; Gelber, Alon; Pratt, Brandon M.; Bell, Jessica L.; Collins, Thomas E.; Knowles, James A.; Armoskus, Christopher; Pato, Michele; Pato, Carlos; Shaaban, Sherin; Staffieri, Sandra; MacKinnon, Sarah; Maconachie, Gail D. E.; Elder, James E.; Traboulsi, Elias I.; Gottlob, Irene; Mackey, David A.; Hunter, David G.; Engle, Elizabeth C. Share Save
Outcomes of Bilateral Cataracts Removed in Infants 1 to 7 Months of Age Using the Toddler Aphakia and Pseudophakia Treatment Study Registry Bothun, Erick D.; Wilson, M. Edward; Vanderveen, Deborah K.; Plager, David A.; Freedman, Sharon F.; Trivedi, Rupal H.; Traboulsi, Elias, I; Anderson, Jill S.; Loh, Allison R.; Yen, Kimberly G.; Weil, Natalie C.; Morrison, David; Lambert, Scott R. Share Save
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Outcomes of Unilateral Cataracts in Infants and Toddlers 7 to 24 Months of Age Toddler Aphakia and Pseudophakia Study (TAPS) Bothun, Erick D.; Wilson, M. Edward; Traboulsi, Elias, I; Diehl, Nancy N.; Plager, David A.; Vanderveen, Deborah K.; Freedman, Sharon F.; Yen, Kimberly G.; Weil, Natalie C.; Loh, Allison R.; Morrison, David; Anderson, Jill S.; Lambert, Scott R. Share Save
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus Mayer, Anja K.; Mahajnah, Muhammad; Thomas, Mervyn G.; Cohen, Yuval; Habib, Adib; Schulze, Martin; Maconachie, Gail D. E.; AlMoallem, Basamat; De Baere, Elfride; Lorenz, Birgit; Traboulsi, Elias, I; Kohl, Susanne; Azem, Abdussalam; Bauer, Peter; Gottlob, Irene; Sharkia, Rajech; Wissinger, Bernd Share Save
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia Weisschuh, Nicole; Stingl, Katarina; Audo, Isabelle; Biskup, Saskia; Bocquet, Beatrice; Branham, Kari; Burstedt, Marie S.; De Baere, Elfride; De Vries, Meindert J.; Golovleva, Irina; Green, Andrew; Heckenlively, John; Leroy, Bart P.; Meunier, Isabelle; Traboulsi, Elias; Wissinger, Bernd; Kohl, Susanne Share Save
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect Shaaban, Sherin; MacKinnon, Sarah; Andrews, Caroline; Staffieri, Sandra E.; Maconachie, Gail D. E.; Chan, Wai-Man; Whitman, Mary C.; Morton, Sarah U.; Yazar, Seyhan; MacGregor, Stuart; Elder, James E.; Traboulsi, Elias I.; Gottlob, Irene; Hewitt, Alex W.; Hunter, David G.; Mackey, David A.; Engle, Elizabeth C. Share Save
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