Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. by Calvin A Mok, Michael P Healey, Tanvi Shekhar, Michel R Leroux, Elise Héon, Mei Zhen

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Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1. by Doug D Chung, Ricardo F Frausto, Aleck E Cervantes, Katherine M Gee, Marina Zakharevich, Evelyn M Hanser, Edwin M Stone, Elise Heon, Anthony J Aldave

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Novel <i>OPN1LW/OPN1MW</i> Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction by Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Monique Cordonnier, Elfriede De Baere, Salmo Raskin, Mario Teruo Sato, Naoye Shiokawa, Susanne Kohl, Bernd Wissinger

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Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-Related Congenital Stationary Night Blindness by Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J Raymond Buncic, Ajoy Vincent

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An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes. by Chunmei Li, Peter N Inglis, Carmen C Leitch, Evgeni Efimenko, Norann A Zaghloul, Calvin A Mok, Erica E Davis, Nathan J Bialas, Michael P Healey, Elise Héon, Mei Zhen, Peter Swoboda, Nicholas Katsanis, Michel R Leroux

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Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans by Emilia Boiadjieva Knöpfel, Emilia Boiadjieva Knöpfel, Emilia Boiadjieva Knöpfel, Clara Vilches, Clara Vilches, Simone M. R. Camargo, Simone M. R. Camargo, Ekaitz Errasti-Murugarren, Ekaitz Errasti-Murugarren, Andrina Stäubli, Andrina Stäubli, Clara Mayayo, Clara Mayayo, Francis L. Munier, Nataliya Miroshnikova, Nadège Poncet, Nadège Poncet, Alexandra Junza, Alexandra Junza, Shomi S. Bhattacharya, Shomi S. Bhattacharya, Esther Prat, Esther Prat, Esther Prat, Vanita Berry, Wolfgang Berger, Wolfgang Berger, Wolfgang Berger, Elise Heon, Anthony T. Moore, Anthony T. Moore, Anthony T. Moore, Óscar Yanes, Óscar Yanes, Virginia Nunes, Virginia Nunes, Virginia Nunes, Manuel Palacín, Manuel Palacín, Manuel Palacín, Francois Verrey, Francois Verrey, Francois Verrey, Barbara Kloeckener-Gruissem, Barbara Kloeckener-Gruissem

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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction by Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

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