Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies
Jean, Philippe, Wong Jun Tai, Fabienne, Singh-Estivalet, Amrit, Lelli, Andrea, Scandola, Cyril, Megharba, Sébastien, Schmutz, Sandrine, Roux, Solène, Mechaussier, Sabrina, Sudres, Muriel, Mouly, Enguerran, Heritier, Anne-Valérie, Bonnet, Crystel, Mallet, Adeline, Novault, Sophie, Libri, Valentina, Petit, Christine, Michalski, Nicolas
Published in Proceedings of the National Academy of Sciences - PNAS (27.06.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (27.06.2023)
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Journal Article
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss
Mechaussier, Sabrina, Marlin, Sandrine, Kaplan, Josseline, Rozet, Jean-Michel, Perrault, Isabelle
Published in Advances in experimental medicine and biology (2019)
Published in Advances in experimental medicine and biology (2019)
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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Dodd, Daniel O, Mechaussier, Sabrina, Yeyati, Patricia L, McPhie, Fraser, Anderson, Jacob R, Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh K, Attard, Thomas, Zariwala, Maimoona A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud R, Parry, David A, Tennant, Peter A, Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas, Black, Holly A, Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Patel, Mitali, McKie, Lisa, Megaw, Roly, Gatsogiannis, Christos, Mohamed, Mai A, Aitken, Stuart, Gautier, Philippe, Reinholt, Finn R, Hirst, Robert A, O'Callaghan, Chris, Heimdal, Ketil, Bottier, Mathieu, Escudier, Estelle, Crowley, Suzanne, Descartes, Maria, Jabs, Ethylin W, Kenia, Priti, Amiel, Jeanne, Bacci, Giacomo Maria, Calogero, Claudia, Palazzo, Viviana, Tiberi, Lucia, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer A, Wegner, Daniel J, Fulton, Anne B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid A, Quigley, Alan, Hall, Emma A, Murphy, Laura C, Cassidy, Diane M, von Kriegsheim, Alex, Papon, Jean-François, Pasquier, Laurent, Murris, Marlène S, Chalmers, James D, Hogg, Claire, Macleod, Kenneth A, Urquhart, Don S, Unger, Stefan, Aitman, Timothy J, Amselem, Serge, Leigh, Margaret W, Knowles, Michael R, Omran, Heymut, Mitchison, Hannah M, Brown, Alan, Marsh, Joseph A, Welburn, Julie P I, Ti, Shih-Chieh, Horani, Amjad, Rozet, Jean-Michel, Perrault, Isabelle, Mill, Pleasantine
Published in Science (American Association for the Advancement of Science) (26.04.2024)
Published in Science (American Association for the Advancement of Science) (26.04.2024)
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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Mechaussier, Sabrina, Almoallem, Basamat, Zeitz, Christina, Van Schil, Kristof, Jeddawi, Laila, Van Dorpe, Jo, Dueñas Rey, Alfredo, Condroyer, Christel, Pelle, Olivier, Polak, Michel, Boddaert, Nathalie, Bahi-Buisson, Nadia, Cavallin, Mara, Bacquet, Jean-Louis, Mouallem-Bézière, Alexandra, Zambrowski, Olivia, Sahel, José Alain, Audo, Isabelle, Kaplan, Josseline, Rozet, Jean-Michel, De Baere, Elfride, Perrault, Isabelle
Published in American journal of human genetics (04.06.2020)
Published in American journal of human genetics (04.06.2020)
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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease
Luscan, Romain, Mechaussier, Sabrina, Paul, Antoine, Tian, Guoling, Gérard, Xavier, Defoort-Dellhemmes, Sabine, Loundon, Natalie, Audo, Isabelle, Bonnin, Sophie, LeGargasson, Jean-François, Dumont, Julien, Goudin, Nicolas, Garfa-Traoré, Meriem, Bras, Marc, Pouliet, Aurore, Bessières, Bettina, Boddaert, Nathalie, Sahel, José-Alain, Lyonnet, Stanislas, Kaplan, Josseline, Cowan, Nicholas J., Rozet, Jean-Michel, Marlin, Sandrine, Perrault, Isabelle
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
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Journal Article
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Mechaussier, Sabrina, Almoallem, Basamat, Zeitz, Christina, Van Schil, Kristof, Jeddawi, Laila, Van Dorpe, Jo, Rey, Alfredo Dueñas, Condroyer, Christel, Pelle, Olivier, Polak, Michel, Boddaert, Nathalie, Bahi-Buisson, Nadia, Cavallin, Mara, Bacquet, Jean-Louis, Mouallem-Bézière, Alexandra, Zambrowski, Olivia, Sahel, José Alain, Audo, Isabelle, Kaplan, Josseline, Rozet, Jean-Michel, De Baere, Elfride, Perrault, Isabelle
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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