Cécile Rouzier

ORCID

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 14

Top Venues

European journal of human genetics : EJHG

Annals of clinical and translational neurology

Genes

Brain communications

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

Publications

Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansovic, Alejandro J Brea-Fernández, Karin Mayer, Teija Paakkola, Caoimhe McKenna, William Wright, Milica Keckarevic Markovic, Dorte Launholt Lildballe, Michal Konecny, Thomas Smol, Pia Alhopuro, Estelle Arnaud Gouttenoire, Katharina Obeid, Albena Todorova, Milena Jankovic, Joanna M Lubieniecka, Maja Stojiljkovic, Marie-Pierre Buisine, Bjørn Ivar Haukanes, Marie Lorans, Hanno Roomere, François Mickaël Petit, Maria K Haanpää, Claire Beneteau, Belén Pérez, Dijana Plaseska-Karanfilska, Matthias Rath, Nico Fuhrmann, Bibiana I Ferreira, Coralea Stephanou, Wenche Sjursen, Aleš Maver, Cécile Rouzier, Adela Chiriță-Emandi, João Gonçalves, Wei Cheng David Kuek, Martin Broly, Lonneke Haer-Wigman, Meow-Keong Thong, Sok-Kun Tae, Michaela Hyblova, Johan T den Dunnen, Andreas Laner
Comparison of the ABC and ACMG systems for variant classification. European journal of human genetics : EJHG (2024)
Eleonora Manzoni, Sara Carli, Pauline Gaignard, Lea Dewi Schlieben, Michio Hirano, Dario Ronchi, Emmanuel Gonzales, Masaru Shimura, Kei Murayama, Yasushi Okazaki, Ivo Barić, Danijela Petkovic Ramadza, Daniela Karall, Johannes Mayr, Diego Martinelli, Chiara La Morgia, Guido Primiano, René Santer, Serenella Servidei, Céline Bris, Aline Cano, Francesca Furlan, Serena Gasperini, Nolwenn Laborde, Costanza Lamperti, Dominic Lenz, Michelangelo Mancuso, Vincenzo Montano, Francesca Menni, Olimpia Musumeci, Victoria Nesbitt, Elena Procopio, Cécile Rouzier, Christian Staufner, Jan-Willem Taanman, Galit Tal, Chiara Ticci, Duccio Maria Cordelli, Valerio Carelli, Vincent Procaccio, Holger Prokisch, Caterina Garone
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome. Brain communications 6 (3) (2024)
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait-El-Mkadem Saadi, Valérie Desquiret-Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati-Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean-Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie-Laure Martin-Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva-Bourdain, Cécile Pagan, Anne-Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis-Flucklinger, null null, Vincent Procaccio
Primary mitochondrial disorders and mimics: Insights from a large French cohort. Annals of clinical and translational neurology 11 (6) (2024)
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait-El-Mkadem Saadi, Valérie Desquiret-Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati-Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean-Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie-Laure Martin-Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva-Bourdain, Cécile Pagan, Anne-Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis-Flucklinger, null null, Vincent Procaccio
Primary mitochondrial disorders and mimics: Insights from a large French cohort. Annals of clinical and translational neurology (2024)
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait-El-Mkadem Saadi, Valérie Desquiret-Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati-Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean-Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie-Laure Martin-Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva-Bourdain, Cécile Pagan, Anne-Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis-Flucklinger, null null, Vincent Procaccio
Primary mitochondrial disorders and mimics: Insights from a large French cohort. Annals of clinical and translational neurology 11 (6) (2024)
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait-El-Mkadem Saadi, Valérie Desquiret-Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati-Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean-Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie-Laure Martin-Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva-Bourdain, Cécile Pagan, Anne-Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis-Flucklinger, null null, Vincent Procaccio
Primary mitochondrial disorders and mimics: Insights from a large French cohort. Annals of clinical and translational neurology 11 (6) (2024)
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansovic, Alejandro J Brea-Fernández, Karin Mayer, Teija Paakkola, Caoimhe McKenna, William Wright, Milica Keckarevic Markovic, Dorte Launholt Lildballe, Michal Konecny, Thomas Smol, Pia Alhopuro, Estelle Arnaud Gouttenoire, Katharina Obeid, Albena Todorova, Milena Jankovic, Joanna M Lubieniecka, Maja Stojiljkovic, Marie-Pierre Buisine, Bjørn Ivar Haukanes, Marie Lorans, Hanno Roomere, François Mickaël Petit, Maria K Haanpää, Claire Beneteau, Belén Pérez, Dijana Plaseska-Karanfilska, Matthias Rath, Nico Fuhrmann, Bibiana I Ferreira, Coralea Stephanou, Wenche Sjursen, Aleš Maver, Cécile Rouzier, Adela Chiriță-Emandi, João Gonçalves, Wei Cheng David Kuek, Martin Broly, Lonneke Haer-Wigman, Meow-Keong Thong, Sok-Kun Tae, Michaela Hyblova, Johan T den Dunnen, Andreas Laner
Comparison of the ABC and ACMG systems for variant classification. European journal of human genetics : EJHG 32 (7) (2024)
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansovic, Alejandro J Brea-Fernández, Karin Mayer, Teija Paakkola, Caoimhe McKenna, William Wright, Milica Keckarevic Markovic, Dorte Launholt Lildballe, Michal Konecny, Thomas Smol, Pia Alhopuro, Estelle Arnaud Gouttenoire, Katharina Obeid, Albena Todorova, Milena Jankovic, Joanna M Lubieniecka, Maja Stojiljkovic, Marie-Pierre Buisine, Bjørn Ivar Haukanes, Marie Lorans, Hanno Roomere, François Mickaël Petit, Maria K Haanpää, Claire Beneteau, Belén Pérez, Dijana Plaseska-Karanfilska, Matthias Rath, Nico Fuhrmann, Bibiana I Ferreira, Coralea Stephanou, Wenche Sjursen, Aleš Maver, Cécile Rouzier, Adela Chiriță-Emandi, João Gonçalves, Wei Cheng David Kuek, Martin Broly, Lonneke Haer-Wigman, Meow-Keong Thong, Sok-Kun Tae, Michaela Hyblova, Johan T den Dunnen, Andreas Laner
Comparison of the ABC and ACMG systems for variant classification. European journal of human genetics : EJHG 32 (7) (2024)
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansovic, Alejandro J Brea-Fernández, Karin Mayer, Teija Paakkola, Caoimhe McKenna, William Wright, Milica Keckarevic Markovic, Dorte Launholt Lildballe, Michal Konecny, Thomas Smol, Pia Alhopuro, Estelle Arnaud Gouttenoire, Katharina Obeid, Albena Todorova, Milena Jankovic, Joanna M Lubieniecka, Maja Stojiljkovic, Marie-Pierre Buisine, Bjørn Ivar Haukanes, Marie Lorans, Hanno Roomere, François Mickaël Petit, Maria K Haanpää, Claire Beneteau, Belén Pérez, Dijana Plaseska-Karanfilska, Matthias Rath, Nico Fuhrmann, Bibiana I Ferreira, Coralea Stephanou, Wenche Sjursen, Aleš Maver, Cécile Rouzier, Adela Chiriță-Emandi, João Gonçalves, Wei Cheng David Kuek, Martin Broly, Lonneke Haer-Wigman, Meow-Keong Thong, Sok-Kun Tae, Michaela Hyblova, Johan T den Dunnen, Andreas Laner
Comparison of the ABC and ACMG systems for variant classification. European journal of human genetics : EJHG 32 (7) (2024)
Eleonora Manzoni, Sara Carli, Pauline Gaignard, Lea Dewi Schlieben, Michio Hirano, Dario Ronchi, Emmanuel Gonzales, Masaru Shimura, Kei Murayama, Yasushi Okazaki, Ivo Barić, Danijela Petkovic Ramadza, Daniela Karall, Johannes Mayr, Diego Martinelli, Chiara La Morgia, Guido Primiano, René Santer, Serenella Servidei, Céline Bris, Aline Cano, Francesca Furlan, Serena Gasperini, Nolwenn Laborde, Costanza Lamperti, Dominic Lenz, Michelangelo Mancuso, Vincenzo Montano, Francesca Menni, Olimpia Musumeci, Victoria Nesbitt, Elena Procopio, Cécile Rouzier, Christian Staufner, Jan-Willem Taanman, Galit Tal, Chiara Ticci, Duccio Maria Cordelli, Valerio Carelli, Vincent Procaccio, Holger Prokisch, Caterina Garone
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome. Brain communications 6 (3) (2024)
Mounir Serag, Morgane Plutino, Perrine Charles, Jean-Philippe Azulay, Annabelle Chaussenot, Véronique Paquis-Flucklinger, Samira Ait-El-Mkadem Saadi, Cécile Rouzier
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations. Genes 14 (12) (2023)
Mounir Serag, Morgane Plutino, Perrine Charles, Jean-Philippe Azulay, Annabelle Chaussenot, Véronique Paquis-Flucklinger, Samira Ait-El-Mkadem Saadi, Cécile Rouzier
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations. Genes 14 (12) (2023)
Mounir Serag, Morgane Plutino, Perrine Charles, Jean-Philippe Azulay, Annabelle Chaussenot, Véronique Paquis-Flucklinger, Samira Ait-El-Mkadem Saadi, Cécile Rouzier
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations. Genes 14 (12) (2023)
Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait-El-Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean-Michel Rozet
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy. EMBO molecular medicine (2023)

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Publication Activity (10 Years)

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Cécile Rouzier