Céline Bonnet (C Bonnet)

ORCID

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 23

Top Venues

American journal of medical genetics. Part A

Nature genetics

Journal of medical genetics

Movement disorders : official journal of the Movement Disorder Society

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

Publications

David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics 56 (7) (2024)
Emeline Renard, Céline Bonnet, M Di Patrizio, E Schmitt, A C Madkaud, C Chabot, M Kuchenbuch, L Lambert
Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report. American journal of medical genetics. Part A 194 (7) (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics (2024)
Albin Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Muller, Julie D Colne, François Feillet, Emmanuelle Schmitt, Matheus Castro, Jullian Savatt, Adriano Burcheri, Christophe Nemos, Christophe Philippe, Laëtitia Lambert
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome. American journal of medical genetics. Part A (2024)
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Stéphane Zuily, Bruno Leheup, David Geneviève, Natacha Dreumont, Emmanuelle Schmitt, Myriam Bronner, Marc Muller, Marion Divoux, Marion Wandzel, Jean-Marie Ravel, Mylène Dexheimer, Aurélie Becker, Virginie Roth, Marjolaine Willems, Christine Coubes, Gaëlle Vieville, Françoise Devillard, Élise Schaefer, Sarah Baer, Amelie Piton, Bénédicte Gérard, Marie Vincent, Mathilde Nizon, Benjamin Cogné, Lyse Ruaud, Nathalie Couque, Audrey Putoux, Patrick Edery, Gaëtan Lesca, Nicolas Chatron, Marianne Till, Laurence Olivier-Faivre, Frédéric Tran-Mau-Them, Jean-Luc Alessandri, Marine Lebrun, Chloé Quélin, Sylvie Odent, Christèle Dubourg, Véronique David, Marie Faoucher, Cyril Mignot, Boris Keren, Élise Pisan, Alexandra Afenjar, Sophie Julia, Éric Bieth, Guillaume Banneau, Alice Goldenberg, Thomas Husson, Dominique Campion, Francois Lecoquierre, Gaël Nicolas, Camille Charbonnier, Anne De Saint Martin, Sophie Naudion, Manon Degoutin, Sophie Rondeau, Caroline Michot, Valérie Cormier-Daire, Abderrahim Oussalah, Carine Pourié, Laëtitia Lambert, Céline Bonnet
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients. Journal of medical genetics (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics 56 (7) (2024)
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Stéphane Zuily, Bruno Leheup, David Geneviève, Natacha Dreumont, Emmanuelle Schmitt, Myriam Bronner, Marc Muller, Marion Divoux, Marion Wandzel, Jean-Marie Ravel, Mylène Dexheimer, Aurélie Becker, Virginie Roth, Marjolaine Willems, Christine Coubes, Gaëlle Vieville, Françoise Devillard, Élise Schaefer, Sarah Baer, Amelie Piton, Bénédicte Gérard, Marie Vincent, Mathilde Nizon, Benjamin Cogné, Lyse Ruaud, Nathalie Couque, Audrey Putoux, Patrick Edery, Gaëtan Lesca, Nicolas Chatron, Marianne Till, Laurence Olivier-Faivre, Frédéric Tran-Mau-Them, Jean-Luc Alessandri, Marine Lebrun, Chloé Quélin, Sylvie Odent, Christèle Dubourg, Véronique David, Marie Faoucher, Cyril Mignot, Boris Keren, Élise Pisan, Alexandra Afenjar, Sophie Julia, Éric Bieth, Guillaume Banneau, Alice Goldenberg, Thomas Husson, Dominique Campion, Francois Lecoquierre, Gaël Nicolas, Camille Charbonnier, Anne De Saint Martin, Sophie Naudion, Manon Degoutin, Sophie Rondeau, Caroline Michot, Valérie Cormier-Daire, Abderrahim Oussalah, Carine Pourié, Laëtitia Lambert, Céline Bonnet
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients. Journal of medical genetics 61 (9) (2024)
Albin Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Muller, Julie D Colne, François Feillet, Emmanuelle Schmitt, Matheus Castro, Jullian Savatt, Adriano Burcheri, Christophe Nemos, Christophe Philippe, Laëtitia Lambert
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome. American journal of medical genetics. Part A 194 (9) (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics (2024)
Emeline Renard, Céline Bonnet, M Di Patrizio, E Schmitt, A C Madkaud, C Chabot, M Kuchenbuch, L Lambert
Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report. American journal of medical genetics. Part A 194 (7) (2024)
Emeline Renard, Céline Bonnet, M Di Patrizio, E Schmitt, A C Madkaud, C Chabot, M Kuchenbuch, L Lambert
Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report. American journal of medical genetics. Part A (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics 56 (7) (2024)
Albin Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Muller, Julie D Colne, François Feillet, Emmanuelle Schmitt, Matheus Castro, Jullian Savatt, Adriano Burcheri, Christophe Nemos, Christophe Philippe, Laëtitia Lambert
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome. American journal of medical genetics. Part A 194 (9) (2024)
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Stéphane Zuily, Bruno Leheup, David Geneviève, Natacha Dreumont, Emmanuelle Schmitt, Myriam Bronner, Marc Muller, Marion Divoux, Marion Wandzel, Jean-Marie Ravel, Mylène Dexheimer, Aurélie Becker, Virginie Roth, Marjolaine Willems, Christine Coubes, Gaëlle Vieville, Françoise Devillard, Élise Schaefer, Sarah Baer, Amelie Piton, Bénédicte Gérard, Marie Vincent, Mathilde Nizon, Benjamin Cogné, Lyse Ruaud, Nathalie Couque, Audrey Putoux, Patrick Edery, Gaëtan Lesca, Nicolas Chatron, Marianne Till, Laurence Olivier-Faivre, Frédéric Tran-Mau-Them, Jean-Luc Alessandri, Marine Lebrun, Chloé Quélin, Sylvie Odent, Christèle Dubourg, Véronique David, Marie Faoucher, Cyril Mignot, Boris Keren, Élise Pisan, Alexandra Afenjar, Sophie Julia, Éric Bieth, Guillaume Banneau, Alice Goldenberg, Thomas Husson, Dominique Campion, Francois Lecoquierre, Gaël Nicolas, Camille Charbonnier, Anne De Saint Martin, Sophie Naudion, Manon Degoutin, Sophie Rondeau, Caroline Michot, Valérie Cormier-Daire, Abderrahim Oussalah, Carine Pourié, Laëtitia Lambert, Céline Bonnet
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients. Journal of medical genetics 61 (9) (2024)
Albin Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Muller, Julie D Colne, François Feillet, Emmanuelle Schmitt, Matheus Castro, Jullian Savatt, Adriano Burcheri, Christophe Nemos, Christophe Philippe, Laëtitia Lambert
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome. American journal of medical genetics. Part A 194 (9) (2024)
Thomas Wirth, Guillemette Clément, Clarisse Delvallée, Céline Bonnet, Thomas Bogdan, Andra Iosif, Audrey Schalk, Jean-Baptiste Chanson, David Pellerin, Bernard Brais, Virginie Roth, Marion Wandzel, Marie-Céline Fleury, Amélie Piton, Nadège Calmels, Izzie Jacques Namer, Stéphane Kremer, Christine Tranchant, Mathilde Renaud, Mathieu Anheim
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B). Movement disorders : official journal of the Movement Disorder Society (2023)
Cendrine Foucard, Marie Belley, Aude Sangare, Céline Bonnet, Mathilde Renaud, Emmanuel Roze
Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B). Neurology. Genetics 10 (1) (2023)
Cendrine Foucard, Marie Belley, Aude Sangare, Céline Bonnet, Mathilde Renaud, Emmanuel Roze
Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B). Neurology. Genetics 10 (1) (2023)
David Pellerin, Pablo Iruzubieta, Şeyma Tekgül, Matt C Danzi, Catherine Ashton, Marie-Josée Dicaire, Marion Wandzel, Virginie Roth, Phillipa J Lamont, Céline Bonnet, Mathilde Renaud, Matthis Synofzik, Stephan Zuchner, Bernard Brais, Ayse Nazli Basak, Henry Houlden
Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family". Movement disorders : official journal of the Movement Disorder Society 38 (8) (2023)
Céline Bonnet
Unraveling the Missing Heritability in Late-Onset Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society (2023)
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine Audebert-Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noëlle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chatron, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne Sophie Denommé-Pichon, Christel Depienne, Anne Dieux, Christele Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Genevieve, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Maximin Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Stanislas Lyonnet, Godelieve Morel, Nolwenn Jean-Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Veronique Pingault, Amelie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quélin, Sylvia Quemener-Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale Saugier-Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frédéric Tran Mau Them, Aurélien Trimouille, Julien Van Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. European journal of human genetics : EJHG (2023)
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie-Thérèse Abi-Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. Clinical genetics (2022)
Jean-Marie Ravel, Margot Comel, Marion Wandzel, Myriam Bronner, Aurélie Tatopoulos, Mathilde Renaud, Laëtitia Lambert, Anne-Claire Bursztejn, Céline Bonnet
First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C. American journal of medical genetics. Part A 188 (11) (2022)

Céline Bonnet.css-eqlu8i{font-size:small;padding-left:4px;} (C Bonnet)

Publication Activity (10 Years)

Top Topics

Top Venues

Céline Bonnet (C Bonnet)