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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From Cellular to Metabolic: Advances in Imaging of Inherited Retinal Diseases by Deepika C. Parameswarappa, Ashwini Kulkarni, Niroj Kumar Sahoo, Srikanta Kumar Padhy, Sumit Randhir Singh, Elise Héon, Jay Chhablani

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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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