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Isabelle Audo (I Audo)

ORCID

Publication Activity (10 Years)

Years Active: 2015-2022
Publications (10 Years): 38

Top Venues

International journal of molecular sciences

Human mutation

Genes

Clinical genetics

Université Pierre et Marie Curie

Université Paris Descartes (MSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Université Pierre et Marie Curie

France

Professor :: Ophthalmology (CHNO des Quinze-Vingts) and Genetics (Institut de la Vision

Education History

Université Paris Descartes

France

MSC

Publications

Vasily M Smirnov, Baptiste Wilmet, Marco Nassisi, Christel Condroyer, Aline Antonio, Camille Andrieu, Céline Devisme, Serge Sancho, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4 -Related Retinal Dystrophy. International journal of molecular sciences 23 (12) (2022)
Gabriel Hallali, Zari Seyed, Anne-Véronique Maillard, Karima Drine, Laurence Lamour, Céline Faure, Isabelle Audo
Extreme Interocular Asymmetry in an Atypical Case of a Hydroxychloroquine-Related Retinopathy. Medicina (Kaunas, Lithuania) 58 (7) (2022)
Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, Marie-Elise Lancelot, Kinga Bujakowska, Vasily Smirnov, Thomas Pugliese, John Neidhardt, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Retrospective Natural History Study of RPGR -Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease. International journal of molecular sciences 23 (13) (2022)
Baptiste Wilmet, Jacques Callebert, Robert Duvoisin, Ruben Goulet, Christophe Tourain, Christelle Michiels, Helen Frederiksen, Frank Schaeffel, Olivier Marre, José Alain Sahel, Isabelle Audo, Serge Picaud, Christina Zeitz
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia. International journal of molecular sciences 24 (1) (2022)
Heba Joharjy, Pierre-Jean Pisella, Isabelle Audo, Marie Laure Le-Lez
A Rare Case of Didanosine-Induced Mid-Peripheral Chorioretinal Atrophy Identified Incidentally 11 Years after the Drug Cessation. Medicina (Kaunas, Lithuania) 58 (6) (2022)
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Catala, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R Heckenlively, Samuel G Jacobson, Kaylie D Jones, Herbert Jägle, Andreas R Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell, André M Vieira Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S Plomp, Thomy J L de Ravel, Charlotte M Reiff, Agnes B Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E Cumhur Sener, Paul A Sieving, Franco Stanzial, Elias I Traboulsi, Stephen H Tsang, Balázs Varsanyi, Richard G Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human mutation 43 (7) (2022)
Baptiste Wilmet, Jacques Callebert, Robert Duvoisin, Ruben Goulet, Christophe Tourain, Christelle Michiels, Helen Frederiksen, Frank Schaeffel, Olivier Marre, José Alain Sahel, Isabelle Audo, Serge Picaud, Christina Zeitz
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia. International journal of molecular sciences 24 (1) (2022)
Robert B Hufnagel, Wendi Liang, Jacque L Duncan, Carmen C Brewer, Isabelle Audo, Allison R Ayala, Kari Branham, Janet K Cheetham, Stephen P Daiger, Todd A Durham, Bin Guan, Elise Heon, Carel B Hoyng, Alessandro Iannaccone, Christine N Kay, Michel Michaelides, Mark E Pennesi, Mandeep S Singh, Ehsan Ullah, null null
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Human mutation 43 (5) (2022)
Baptiste Wilmet, Jacques Callebert, Robert Duvoisin, Ruben Goulet, Christophe Tourain, Christelle Michiels, Helen Frederiksen, Frank Schaeffel, Olivier Marre, José Alain Sahel, Isabelle Audo, Serge Picaud, Christina Zeitz
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia. International journal of molecular sciences 24 (1) (2022)
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Zeinab Ravesh, Artur V Cideciyan, Katarina Stingl, Isabelle Audo, Isabelle Meunier, Béatrice Bocquet, Elias I Traboulsi, Alison J Hardcastle, Jessica C Gardner, Michel Michaelides, Kari E Branham, Thomas Rosenberg, Sten Andreasson, Hélène Dollfus, David Birch, Andrea L Vincent, Loreto Martorell, Jaume Catala, Ulrich Kellner, Klaus Rüther, Birgit Lorenz, Markus N Preising, Emanuela Manfredini, Yuri A Zarate, Raymon Vijzelaar, Eberhart Zrenner, Samuel G Jacobson, Susanne Kohl
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy. Proceedings of the National Academy of Sciences of the United States of America 119 (27) (2022)
Amélie Rodrigues, Amélie Slembrouck-Brec, Céline Nanteau, Angélique Terray, Yelyzaveta Tymoshenko, Yvrick Zagar, Sacha Reichman, Zhouhuan Xi, José Alain Sahel, Stéphane Fouquet, Gael Orieux, Emeline F Nandrot, Leah C Byrne, Isabelle Audo, Jérôme E Roger, Olivier Goureau
Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue. NPJ Regenerative medicine 7 (1) (2022)
Christina Zeitz, Marco Nassisi, Caroline Laurent-Coriat, Camille Andrieu, Fiona Boyard, Christel Condroyer, Vanessa Démontant, Aline Antonio, Marie-Elise Lancelot, Helen Frederiksen, Barbara Kloeckener-Gruissem, Said El Shamieh, Xavier Zanlonghi, Isabelle Meunier, Anne-Françoise Roux, Saddek Mohand-Saïd, José Alain Sahel, Isabelle Audo
CHM mutation spectrum and disease: An update at the time of human therapeutic trials. Human mutation 42 (4) (2021)
Céline Faure, Maxime Chassery, Raphaëlle Ores, Isabelle Audo
Didanosine-induced Retinopathy: New Insights with Long-term Follow-up. Ocular immunology and inflammation (2021)
Kate Elspeth 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
Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness. Genes 12 (3) (2021)
Ana Fakin, Crystel Bonnet, Anne Kurtenbach, Saddek Mohand-Said, Ditta Zobor, Katarina Stingl, Francesco Testa, Francesca Simonelli, José-Alain Sahel, Isabelle Audo, Eberhart Zrenner, Marko Hawlina, Christine Petit
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush. International journal of molecular sciences 22 (19) (2021)
Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. International journal of molecular sciences 22 (12) (2021)
Elise Orhan, Marion Neuillé, Miguel de Sousa Dias, Thomas Pugliese, Christelle Michiels, Christel Condroyer, Aline Antonio, José-Alain Sahel, Isabelle Audo, Christina Zeitz
A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency. International journal of molecular sciences 22 (9) (2021)
Christina Zeitz, Cécile Méjécase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Démontant, Lisa Emmenegger, Audrey Schalk, Marion Neuillé, Elise Orhan, Sébastien Augustin, Crystel Bonnet, Amrit Estivalet, Frédéric Blond, Steven Blanchard, Camille Andrieu, Sandra Chantot-Bastaraud, Thierry Léveillard, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy. International journal of molecular sciences 22 (15) (2021)
Lorane Bechet, Raphaël Atia, Christina Zeitz, Saddek Mohand-Saïd, José-Alain Sahel, Pierre-Oliver Barale, Isabelle Audo
Management of a case of Enhanced S-cone syndrome with massive foveoschisis treated with pars plana vitrectomy with silicone oil tamponade. Ophthalmic genetics 42 (5) (2021)
Marco Nassisi, Vasily M Smirnov, Cyntia Solis Hernandez, Saddek Mohand-Saïd, Christel Condroyer, Aline Antonio, Laura Kühlewein, Melanie Kempf, Susanne Kohl, Bernd Wissinger, Fadi Nasser, Sara D Ragi, Nan-Kai Wang, Janet R Sparrow, Vivienne C Greenstein, Stylianos Michalakis, Omar A Mahroo, Rola Ba-Abbad, Michel Michaelides, Andrew R Webster, Simona Degli Esposti, Brooke Saffren, Jenina Capasso, Alex Levin, William W Hauswirth, Claire-Marie Dhaenens, Sabine Defoort-Dhellemmes, Stephen H Tsang, Eberhart Zrenner, Jose-Alain Sahel, Simon M Petersen-Jones, Christina Zeitz, Isabelle Audo
CNGB1-related rod-cone dystrophy: A mutation review and update. Human mutation 42 (6) (2021)
Marco Nassisi, Isabelle Audo, Christina Zeitz, Juliette Varin, Juliette Wohlschlegel, Vasily Smirnov, Dominique Santiard-Baron, Serge Picaud, José-Alain Sahel
Impact of the COVID-19 lockdown on basic science research in ophthalmology: the experience of a highly specialized research facility in France. Eye (London, England) 34 (7) (2020)
Lama Jaffal, Hawraa Joumaa, Zamzam Mrad, Christina Zeitz, Isabelle Audo, Said El Shamieh
The genetics of rod-cone dystrophy in Arab countries: a systematic review. European journal of human genetics : EJHG 29 (6) (2020)
Maria Solaguren-Beascoa, Kinga M Bujakowska, Cécile Méjécase, Lisa Emmenegger, Elise Orhan, Marion Neuillé, Saddek Mohand-Saïd, Christel Condroyer, Marie-Elise Lancelot, Christelle Michiels, Vanessa Demontant, Aline Antonio, Mélanie Letexier, Jean-Paul Saraiva, Christine Lonjou, Wassila Carpentier, Thierry Léveillard, Eric A Pierce, Hélène Dollfus, José Alain Sahel, Shomi S Bhattacharya, Isabelle Audo, Christina Zeitz
WDR34, a candidate gene for non-syndromic rod-cone dystrophy. Clinical genetics 99 (2) (2020)
M G Bah, Diana Rodriguez, C Cazeneuve, Fanny Mochel, David Devos, Agnese Suppiej, Agathe Roubertie, Isabelle Meunier, Cyril Gitiaux, A Curie, F Klapczynski, N Allani-Essid, M Carneiro, R Van Minkelen, Anneke J A Kievit, Joel Fluss, B Leheup, L Ratbi, D Héron, D Gras, Jeremy Do Cao, S Pichard, I Strubi-Villaume, Isabelle Audo, Gaëtan Lesca, Perrine Charles, F Dubois, P Comet-Didierjean, Y Capri, C Barondiot, M Barathon, Claire Ewenczyk, Alexandra Dürr, Mignot Cyril
Deciphering the natural history of SCA7 in children. European journal of neurology 27 (11) (2020)
Juliette Varin, Margaret M Reynolds, Nassima Bouzidi, Sarah Tick, Juliette Wohlschlegel, Ondine Becquart, Christelle Michiels, Olivier Dereure, Robert M Duvoisin, Catherine W Morgans, José-Alain Sahel, Quentin Samaran, Bernard Guillot, José S Pulido, Isabelle Audo, Christina Zeitz
Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy. PloS one 15 (4) (2020)
Christina Zeitz, Christelle Michiels, Marion Neuillé, Christoph Friedburg, Christel Condroyer, Fiona Boyard, Aline Antonio, Nassima Bouzidi, Diana Milicevic, Robin Veaux, Aurore Tourville, Axelle Zoumba, Imene Seneina, Marine Foussard, Camille Andrieu, Markus N Preising, Steven Blanchard, Jean-Paul Saraiva, Lilia Mesrob, Edith Le Floch, Claire Jubin, Vincent Meyer, Hélène Blanché, Anne Boland, Jean-François Deleuze, Dror Sharon, Isabelle Drumare, Sabine Defoort-Dhellemmes, Elfride De Baere, Bart P Leroy, Xavier Zanlonghi, Ingele Casteels, Thomy J de Ravel, Irina Balikova, Rob K Koenekoop, Fanny Laffargue, Rebecca McLean, Irene Gottlob, Dominique Bonneau, Daniel F Schorderet, Francis L Munier, Martin McKibbin, Katrina Prescott, Valerie Pelletier, Hélène Dollfus, Yaumara Perdomo-Trujillo, Céline Faure, Charlotte Reiff, Bernd Wissinger, Isabelle Meunier, Susanne Kohl, Eyal Banin, Eberhart Zrenner, Bernhard Jurklies, Birgit Lorenz, José Alain Sahel, Isabelle Audo
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders. Human mutation 40 (6) (2019)
Nicole Weisschuh, Marc Sturm, Britta Baumann, Isabelle Audo, Carmen Ayuso, Beatrice Bocquet, Kari Branham, Brian P Brooks, Jaume Catalá-Mora, Roberto Giorda, John R Heckenlively, Robert B Hufnagel, Samuel G Jacobson, Ulrich Kellner, Sofia Kitsiou-Tzeli, Alexandre Matet, Loreto Martorell Sampol, Isabelle Meunier, Günther Rudolph, Dror Sharon, Katarina Stingl, Berthold Streubel, Balázs Varsányi, Bernd Wissinger, Susanne Kohl
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Human mutation 41 (1) (2019)
Lama Jaffal, Wissam H Joumaa, Alexandre Assi, Charles Helou, George Cherfan, Kazem Zibara, Isabelle Audo, Christina Zeitz, Said El Shamieh
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. Genes 10 (12) (2019)
Lama Jaffal, Wissam H Joumaa, Alexandre Assi, Charles Helou, Christel Condroyer, Maya El Dor, Georges Cherfan, Christina Zeitz, Isabelle Audo, Kazem Zibara, Said El Shamieh
Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients. Genes 10 (2) (2019)
Elise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies. International journal of molecular sciences 20 (19) (2019)
Julia Felden, Britta Baumann, Manir Ali, Isabelle Audo, Carmen Ayuso, Beatrice Bocquet, Ingele Casteels, Blanca Garcia-Sandoval, Samuel G Jacobson, Bernhard Jurklies, Ulrich Kellner, Line Kessel, Birgit Lorenz, Martin McKibbin, Isabelle Meunier, Thomy de Ravel, Thomas Rosenberg, Klaus Rüther, Maria Vadala, Bernd Wissinger, Katarina Stingl, Susanne Kohl
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Human mutation 40 (8) (2019)
Cécile Méjécase, S Mohand-Saïd, Said El Shamieh, A Antonio, C Condroyer, S Blanchard, M Letexier, J-P Saraiva, José Alain Sahel, Isabelle Audo, Christina Zeitz
A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. Clinical genetics 93 (3) (2019)
Cécile Méjécase, Aurélie Hummel, Saddek Mohand-Saïd, Camille Andrieu, Said El Shamieh, Aline Antonio, Christel Condroyer, Fiona Boyard, Marine Foussard, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José Alain Sahel, Christina Zeitz, Isabelle Audo
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. Clinical genetics 95 (2) (2018)
Marco Nassisi, Saddek Mohand-Saïd, Claire-Marie Dhaenens, Fiona Boyard, Vanessa Démontant, Camille Andrieu, Aline Antonio, Christel Condroyer, Marine Foussard, Cécile Méjécase, Chiara Maria Eandi, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort. International journal of molecular sciences 19 (8) (2018)
Nicole Weisschuh, Katarina Stingl, Isabelle Audo, Saskia Biskup, Béatrice Bocquet, Kari Branham, Marie S Burstedt, Elfride De Baere, Meindert J De Vries, Irina Golovleva, Andrew Green, John Heckenlively, Bart P Leroy, Isabelle Meunier, Elias Traboulsi, Bernd Wissinger, Susanne Kohl
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. Human mutation 39 (10) (2018)
Christina Zeitz, Cécile Méjécase, Mathilde Stévenard, Christelle Michiels, Isabelle Audo, Michael F Marmor
A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness. BioMed research international 2018 (2018)
Isabelle Audo, Saddek Mohand-Said, Elise Boulanger-Scemama, Xavier Zanlonghi, Christel Condroyer, Vanessa Démontant, Fiona Boyard, Aline Antonio, Cécile Méjécase, Said El Shamieh, José Alain Sahel, Christina Zeitz
MERTK mutation update in inherited retinal diseases. Human mutation 39 (7) (2018)
Sachiko Kikuchi, Shuhei Kameya, Kiyoko Gocho, Said El Shamieh, Keiichiro Akeo, Yuko Sugawara, Kunihiko Yamaki, Christina Zeitz, Isabelle Audo, Hiroshi Takahashi
Cone dystrophy in patient with homozygous RP1L1 mutation. BioMed research international 2015 (2015)

Isabelle Audo.css-eqlu8i{font-size:small;padding-left:4px;} (I Audo)

Publication Activity (10 Years)

Top Topics

Top Venues

Isabelle Audo (I Audo)