Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies

by Andrea Barabino, Anthony Flamier, Roy Hanna, Elise Héon, Benjamin S. Freedman, Gilbert Bernier
Published 2020-03-01

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
Published 2011-10-01

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
Published 2017-01-01

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

by David B. McGuigan, Elise Heon, Artur V. Cideciyan, Rinki Ratnapriya, Monica Lu, Alexander Sumaroka, Alejandro J. Roman, Vaishnavi Batmanabane, Alexandra V. Garafalo, Edwin M. Stone, Anand Swaroop, Samuel G. Jacobson
Published 2017-07-01

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
Published 2021-02-01

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
Published 2008-03-01

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
Published 2019-06-01