All papers authored by Aurore Garde
Refreshing results…
2023
Charlotte Gehin 
,
Museer A. Lone ,
Winston Lee,
Laura Capolupo ,
Sylvia Ho ,
Adekemi M. Adeyemi,
Erica H. Gerkes,
Alexander Pa A. Stegmann ,
Estrella López-Martín,
Eva Bermejo-Sánchez ,
Beatriz Martínez-Delgado,
Christiane Zweier,
Cornelia Kraus,
Bernt Popp ,
Vincent Strehlow
and 72 other authors
,
Museer A. Lone ,
Winston Lee,
Laura Capolupo ,
Sylvia Ho ,
Adekemi M. Adeyemi,
Erica H. Gerkes,
Alexander Pa A. Stegmann ,
Estrella López-Martín,
Eva Bermejo-Sánchez ,
Beatriz Martínez-Delgado,
Christiane Zweier,
Cornelia Kraus,
Bernt Popp ,
Vincent Strehlow
and 72 other authors
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
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2022
Sayaka Kayumi ,
Luis A. Pérez-Jurado,
María Palomares,
Sneha Rangu ,
Sarah E. Sheppard ,
Wendy K. Chung ,
Michael C. Kruer ,
Mira Kharbanda ,
David J. Amor ,
George McGillivray ,
Julie S. Cohen ,
Sixto García-Miñaúr,
Clare L. van Eyk ,
Kelly Harper,
Lachlan A. Jolly
and 60 other authors
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,
Luis A. Pérez-Jurado,
María Palomares,
Sneha Rangu ,
Sarah E. Sheppard ,
Wendy K. Chung ,
Michael C. Kruer ,
Mira Kharbanda ,
David J. Amor ,
George McGillivray ,
Julie S. Cohen ,
Sixto García-Miñaúr,
Clare L. van Eyk ,
Kelly Harper,
Lachlan A. Jolly
and 60 other authors
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Emilie Tisserant,
Antonio Vitobello ,
Davide Callegarin,
Simon Verdez ,
Ange‐line Bruel ,
Ludwig Serge Aho Glele ,
Arthur Sorlin ,
Eleonore Viora‐Dupont ,
Marina Konyukh,
Nathalie Marle ,
Sophie Nambot ,
Sébastien Moutton ,
Caroline Racine ,
Aurore Garde ,
Julian Delanne
and 12 other authors
Download from onlinelibrary.wiley.com
,
Davide Callegarin,
Simon Verdez ,
Ange‐line Bruel ,
Ludwig Serge Aho Glele ,
Arthur Sorlin ,
Eleonore Viora‐Dupont ,
Marina Konyukh,
Nathalie Marle ,
Sophie Nambot ,
Sébastien Moutton ,
Caroline Racine ,
Aurore Garde ,
Julian Delanne
and 12 other authors
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Mylène Tharreau ,
Aurore Garde ,
Godelieve Morel,
Sandrine Marlin,
Christel Thauvin‐Robinet,
Sylvain Ernest,
Sophie Nambot,
Christophe Philippe,
Yannis Duffourd,
Ninon Ternoy,
Christian Duvillard,
Siddharth Banka ,
Frederic Tran Mau‐Them ,
Laurence Faivre
,
Aurore Garde ,
Godelieve Morel,
Sandrine Marlin,
Christel Thauvin‐Robinet,
Sylvain Ernest,
Sophie Nambot,
Christophe Philippe,
Yannis Duffourd,
Ninon Ternoy,
Christian Duvillard,
Siddharth Banka ,
Frederic Tran Mau‐Them ,
Laurence Faivre
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
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2021
Anne-Sophie Denommé-Pichon ,
Antonio Vitobello ,
Robert Olaso ,
Alban Ziegler,
Médéric Jeanne ,
Thibaud Jouan,
Frédéric Tran Mau-Them ,
Anne Boland ,
Victor Couturier,
Bertrand Fin,
Caroline Racine ,
Delphine Bacq-Daian,
Céline Besse,
Aurore Garde ,
Bertrand Isidor
and 33 other authors
Download from www.nature.com
,
Antonio Vitobello ,
Robert Olaso ,
Alban Ziegler,
Médéric Jeanne ,
Thibaud Jouan,
Frédéric Tran Mau-Them ,
Anne Boland ,
Victor Couturier,
Bertrand Fin,
Caroline Racine ,
Delphine Bacq-Daian,
Céline Besse,
Aurore Garde ,
Bertrand Isidor
and 33 other authors
Download from www.nature.com
Katrine M. Johannesen,
Sandra Whalen,
Elena Gardella,
Cathrine E. Gjerulfsen,
Rob Pw Rouhl,
Margot Reijnders,
Boris Keren,
Frederic Tran Mau Them ,
Allan Bayat,
Julien Buratti,
Thomas Courtin,
Anne-Sophie Denommé-Pichon ,
Aurore Garde
,
Allan Bayat,
Julien Buratti,
Thomas Courtin,
Anne-Sophie Denommé-Pichon ,
Aurore Garde
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
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Aurore Garde ,
Laurent Guibaud,
Alice Goldenberg,
Florence Petit ,
Juliette Mazereeuw‐Hautier,
Rodolphe Dard,
Annick Toutain,
Joelle Roume,
Renaud Touraine,
Fanny Morice‐Picard,
Nicolas Chassaing ,
Stéphanie Arpin,
Marjolaine Willems ,
Olivia Boccara ,
Didier Lacombe
and 27 other authors
Download from onlinelibrary.wiley.com
,
Laurent Guibaud,
Alice Goldenberg,
Florence Petit ,
Juliette Mazereeuw‐Hautier,
Rodolphe Dard,
Annick Toutain,
Joelle Roume,
Renaud Touraine,
Fanny Morice‐Picard,
Nicolas Chassaing ,
Stéphanie Arpin,
Marjolaine Willems ,
Olivia Boccara ,
Didier Lacombe
and 27 other authors
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Christel Thauvin-Robinet,
Marjolaine Willems,
Marta Spodenkiewicz,
Sandra Whalen,
Annick Toutain,
Marie Vincent,
Alban Ziegler,
Radka Stoeva,
Julien Thevenon,
Baptiste Troude,
Julien Van-Gils,
Catherine Vincent-Delorme,
Clémence Vanlerberghe,
Antoine Wyrebski,
Constance Wells
and 96 other authors
Download from link.springer.com
2020
Frederic Tran Mau‐Them,
Aurore Garde ,
Jenny Cornaton,
Arthur Sorlin ,
Catherine Vincent‐Delorme,
Sébastien Moutton,
Claire Nicolas,
Annick Toutain,
Philippe Khau‐Van‐Kien,
Christine Juif,
Yann Trousselet,
Bertrand Isidor,
Fabienne Prieur,
David Geneviève,
Fanny Tessier
and 28 other authors
,
Jenny Cornaton,
Arthur Sorlin ,
Catherine Vincent‐Delorme,
Sébastien Moutton,
Claire Nicolas,
Annick Toutain,
Philippe Khau‐Van‐Kien,
Christine Juif,
Yann Trousselet,
Bertrand Isidor,
Fabienne Prieur,
David Geneviève,
Fanny Tessier
and 28 other authors
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
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Michele Bertacchi ,
Anna Lisa Romano,
Agnès Loubat,
Frederic Tran Mau‐Them ,
Marjolaine Willems,
Laurence Faivre ,
Philippe Khau van Kien,
Paul Kuentz ,
Laurence Perrin,
Françoise Devillard,
Christophe Philippe,
Aurore Garde ,
Arthur Sorlin,
Francesco Neri,
Rossella Di Giaimo
and 5 other authors
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,
Anna Lisa Romano,
Agnès Loubat,
Frederic Tran Mau‐Them ,
Marjolaine Willems,
Laurence Faivre ,
Philippe Khau van Kien,
Paul Kuentz ,
Laurence Perrin,
Françoise Devillard,
Christophe Philippe,
Aurore Garde ,
Arthur Sorlin,
Francesco Neri,
Rossella Di Giaimo
and 5 other authors
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2019
Ange-Line Bruel,
Qu?r,
Antonio Vitobello,
Sophie Nambot,
Frédéric Tran Mau-Them ,
Yannis Duffourd,
Virginie Quéré,
Detlef Trost,
Paul Kuentz,
Daphné Lehalle,
Aida Telegrafi,
Julien Thevenon,
Philippine Garret,
Pierre Vabres,
Anne-Laure Mosca-Boidron
and 12 other authors
Download from www.nature.com
,
Yannis Duffourd,
Virginie Quéré,
Detlef Trost,
Paul Kuentz,
Daphné Lehalle,
Aida Telegrafi,
Julien Thevenon,
Philippine Garret,
Pierre Vabres,
Anne-Laure Mosca-Boidron
and 12 other authors
Download from www.nature.com
Daphné Lehalle ,
Frédéric Tran Mau-Them ,
Roberto Colombo,
Michael O'Grady,
Bénédicte Héron,
Nada Houcinat,
Paul Kuentz ,
Antonio Vitobello,
Sebastien Gay,
Sebastien Moutton,
Caroline Racine,
Arthur Sorlin,
Aurore Garde ,
Julien Thevenon,
Christophe Philippe
and 8 other authors
Download from api.wiley.com
,
Frédéric Tran Mau-Them ,
Roberto Colombo,
Michael O'Grady,
Bénédicte Héron,
Nada Houcinat,
Paul Kuentz ,
Antonio Vitobello,
Sebastien Gay,
Sebastien Moutton,
Caroline Racine,
Arthur Sorlin,
Aurore Garde ,
Julien Thevenon,
Christophe Philippe
and 8 other authors
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Deciphering Developmental Disorders Study,
Ekaterina L. Ivanova,
Aurore Morlon,
Linyan Meng,
Anne Molitor,
Bruno Kieffer,
Nicodème Paul,
Angélique Pichot,
Frédéric Tran Mau-Them ,
Antoine Hanauer,
Lydie Naegely,
Nolwenn Jean-Marçais,
Tatiana Tvrdik,
Susan M. Hiatt,
Aline Kolmer
and 46 other authors
,
Antoine Hanauer,
Lydie Naegely,
Nolwenn Jean-Marçais,
Tatiana Tvrdik,
Susan M. Hiatt,
Aline Kolmer
and 46 other authors
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
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