Aurore Garde
French Institute of Health and Medical Research
28 Papers
35 Citations
Aurore Garde is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 4, co-authored 6 publications.
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Papers
2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
Ange-Line Bruel,Antonio Vitobello,Frédéric Tran Mau-Them,Sophie Nambot,Yannis Duffourd,Virginie Quéré,Paul Kuentz,Philippine Garret,Julien Thevenon,Sébastien Moutton,Daphné Lehalle,Nolwenn Jean-Marçais,Aurore Garde,Julian Delanne,Mathilde Lefebvre,François Lecoquierre,Detlef Trost,Megan Cho,Amber Begtrup,Aida Telegrafi,Pierre Vabres,Anne-Laure Mosca-Boidron,P. Callier,Christophe Philippe,Laurence Faivre,Christel Thauvin-Robinet +25 more
TL;DR: The introduction of user-friendly gene-matching tools, such as GeneMatcher, appeared to be an essential step for the rapid identification of novel disease genes responsible for ID/MCA.
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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.
Anne-Sophie Denommé-Pichon,Antonio Vitobello,Robert Olaso,Alban Ziegler,Médéric Jeanne,Frédéric Tran Mau-Them,Victor Couturier,Caroline Racine,Bertrand Isidor,Charlotte Poë,Thibaud Jouan,Anne Boland,Bertrand Fin,Delphine Bacq-Daian,Céline Besse,Aurore Garde,Adeline Prost,Philippine Garret,Emilie Tisserant,Julian Delanne,Sophie Nambot,Aurélien Juven,Magali Gorce,Mathilde Nizon,Marie Vincent,Sébastien Moutton,Mélanie Fradin,Alinoë Lavillaureix,Paul Rollier,Yline Capri,Julien Van-Gils,Tiffany Busa,Sabine Sigaudy,Laurent Pasquier,Magalie Barth,Ange-Line Bruel,Cyril Flamant,Clement Prouteau,Dominique Bonneau,Annick Toutain,Corinne Chantegret,P. Callier,Christophe Philippe,Yannis Duffourd,Jean-François Deleuze,Arthur Sorlin,Laurence Faivre,Christel Thauvin-Robinet +47 more
TL;DR: In this article, the feasibility of performing accelerated trio-genome sequencing (GS) with limited additional costs by integrating urgent requests into the routine workflow was evaluated in a French hospital network.
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Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Aurore Garde,Jenny Cornaton,Arthur Sorlin,Sébastien Moutton,Claire Nicolas,Christine Juif,David Geneviève,Laurence Perrin,Philippe Khau-Van-Kien,Thomas Smol,Catherine Vincent-Delorme,Bertrand Isidor,Benjamin Cogné,Alexandra Afenjar,Boris Keren,Christine Coubes,Fabienne Prieur,Annick Toutain,Yann Trousselet,Solène Bourgouin,Coralie Gonin-Olympiade,Kim Giraudat,Amélie Piton,Bénédicte Gérard,Sylvie Odent,Fanny Tessier,Lola Lemasson,Solveig Heide,Anne-Claire Gelineau,Catherine Sarret,Anne Miret,Elise Schaefer,Juliette Piard,Rémi Mathevet,Marion Boucon,Ange-Line Bruel,Frédéric Tran Mau-Them,Martin Chevarin,Antonio Vitobello,Christophe Philippe,Christel Thauvin-Robinet,Laurence Faivre +41 more
TL;DR: It is revealed that the cognitive phenotype of patients with POGZ pathogenic variants can range from learning disabilities to severe ID, and that children with learning disabilities could benefit from next generation sequencing techniques.
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Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Daphné Lehalle,Roberto Colombo,Michael J. O'Grady,Bénédicte Héron,Bénédicte Héron,Nada Houcinat,Paul Kuentz,Sebastien Moutton,Arthur Sorlin,Julien Thevenon,Julian Delanne,Caroline Racine,Aurore Garde,Frédéric Tran Mau-Them,Christophe Philippe,Antonio Vitobello,Sophie Nambot,Frédéric Huet,Yannis Duffourd,François Feillet,Christel Thauvin-Robinet,Sandrine Marlin,Sandrine Marlin,Laurence Faivre +23 more
TL;DR: Seven individuals from four families, diagnosed at 3–23 years of age, and who were referred to a clinical geneticist for etiologic exploration of syndromic hearing loss, associated with moderate learning disabilities are described.
13
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
Aurore Garde,Laurent Guibaud,Alice Goldenberg,Florence Petit,Rodolphe Dard,Joelle Roume,Juliette Mazereeuw-Hautier,Nicolas Chassaing,Didier Lacombe,Fanny Morice-Picard,Annick Toutain,Stéphanie Arpin,Olivia Boccara,Renaud Touraine,Patricia Blanchet,Christine Coubes,Marjolaine Willems,Lucile Pinson,Philippe Khau Van Kien,Christine Chiaverini,Fabienne Giuliano,Jean-Luc Alessandri,Michèle Mathieu-Dramard,Gilles Morin,Anne-Claire Bursztejn,Cyril Mignot,Diane Doummar,Frederico Di Rocco,Jenny Cornaton,Claire Nicolas,Elodie Gautier,Maxime Luu,Marc Bardou,Arthur Sorlin,Christophe Philippe,Patrick Edery,Massimiliano Rossi,V. Carmignac,Christel Thauvin-Robinet,Pierre Vabres,Laurence Faivre +40 more
TL;DR: In this article, the authors describe the clinical and radiological features of MCAP, to suggest relevant clinical endpoints applicable in future trials of targeted drug therapy, taking into account the phenotypic heterogeneity in MCAP patients, in the context of emerging clinical trials, suggest that patients should be evaluated based on the main neurocognitive expression on each patient.
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