Philippine Garret

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 7

Top Venues

European journal of human genetics : EJHG

Human mutation

Nature genetics

Journal of medical genetics

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

Publications

Caroline Racine, Anne Sophie Denommé-Pichon, Camille Engel, Frédéric Tran Mau Them, Ange-Line Bruel, Antonio Vitobello, Hana Safraou, Arthur Sorlin, Sophie Nambot, Julian Delanne, Aurore Garde, Estelle Colin, Sébastien Moutton, Julien Thevenon, Nolwenn Jean-Marçais, Marjolaine Willems, David Geneviève, Lucile Pinson, Laurence Perrin, Fanny Laffargue, James Lespinasse, Elodie Lacaze, Arnaud Molin, Marion Gerard, Laetitia Lambert, Charlotte Benigni, Olivier Patat, null null, Valentin Bourgeois, Charlotte Poe, Martin Chevarin, Victor Couturier, Philippine Garret, Christophe Philippe, Yannis Duffourd, Laurence Olivier-Faivre, Christel Thauvin-Robinet
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases. Journal of medical genetics (2023)
Philippine Garret, Martin Chevarin, Antonio Vitobello, Simon Verdez, Cyril Fournier, Alain Verloes, Emilie Tisserant, Pierre Vabres, Orlane Prevel, Christophe Philippe, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frédéric Tran Mau Them, Hana Safraou, Aïcha Boughalem, Jean-Marc Costa, Detlef Trost, Christel Thauvin-Robinet, Laurence Faivre, Yannis Duffourd
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort. European journal of human genetics : EJHG (2022)
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-Auge, Bertrand Fin, Delphine Bacq-Daian, Céline Besse, Aurore Garde, Adeline Prost, Philippine Garret, Émilie Tisserant, Julian Delanne, Sophie Nambot, Aurélien Juven, Magali Gorce, Mathilde Nizon, Marie Vincent, Sebastien 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, Clément Prouteau, Dominique Bonneau, Annick Toutain, Corinne Chantegret, Patrick Callier, Christophe Philippe, Yannis Duffourd, Jean-François Deleuze, Arthur Sorlin, Laurence Faivre, Christel Thauvin-Robinet
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network. European journal of human genetics : EJHG (2021)
Philippine Garret, Frédéric Ebstein, Geoffroy Delplancq, Blandine Dozieres-Puyravel, Aïcha Boughalem, Stéphane Auvin, Yannis Duffourd, Sandro Klafack, Barbara A Zieba, Sana Mahmoudi, Karun K Singh, Laurence Duplomb, Christel Thauvin-Robinet, Jean-Marc Costa, Elke Krüger, Detlef Trost, Alain Verloes, Laurence Faivre, Antonio Vitobello
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. Clinical genetics 97 (4) (2020)
Francois Lecoquierre, Yannis Duffourd, Antonio Vitobello, Ange-Line Bruel, Benoit Urteaga, Christine Coubes, Philippine Garret, Sophie Nambot, Martin Chevarin, Thibaud Jouan, Sebastien Moutton, null null, Frédéric Tran-Mau-Them, Christophe Philippe, Arthur Sorlin, Laurence Olivier-Faivre, Christel Thauvin-Robinet
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, Bénédicte Demeer, Judith St-Onge, Yannis Duffourd, Paul Kuentz, Jean-Benoît Courcet, Virginie Carmignac, Philippine Garret, Didier Bessis, Odile Boute, Alain-Marie Bron, Guillaume Captier, Esther Carmi, Bernard Devauchelle, David Geneviève, Catherine Gondry-Jouet, Laurent Guibaud, Arnaud Lafon, Michèle Mathieu-Dramard, Julien Thevenon, William B Dobyns, Geneviève Bernard, Satyamaanasa Polubothu, Francesca Faravelli, Veronica A Kinsler, Christel Thauvin, Laurence Faivre, Margaret Elizabeth Ross, Jean-Baptiste Rivière
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature genetics 51 (10) (2019)
Philippine Garret, Céline Bris, Vincent Procaccio, Patrizia Amati-Bonneau, Pierre Vabres, Nada Houcinat, Emilie Tisserant, François Feillet, Ange-Line Bruel, Virginie Carmignac, Christophe Philippe, Arthur Sorlin, Frédéric Tran Mau-Them, Antonio Vitobello, Jean-Marc Costa, Aïcha Boughalem, Detlef Trost, Laurence Olivier-Faivre, Christel Thauvin-Robinet, Yannis Duffourd
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light. Human mutation 40 (12) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Philippine Garret