Christophe Philippe

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 13

Top Venues

European journal of human genetics : EJHG

Human mutation

The pharmacogenomics journal

Genetics in medicine : official journal of the American College of Medical Genetics

CHU de DIJON (PHD)

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

Education History

CHU de DIJON Dec 01 2016

France

PHD :: Laboratory of molecular genetics - Equipe GAD

CHU de Nancy Feb 01 1997 - Dec 01 2016

France

PHD :: Laboratory of Human Genetics

Publications

Eleonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaëtan Lesca, Audrey Putoux, Linda Pons, Amandine Cadenes, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Myrtille Spetchian, Meriem Yousfi, Dominique Salvi, Elodie Gautier, Antonio Vitobello, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frédéric Tran Mau Them, Anne Faudet, Boris Keren, Audrey Labalme, Nicolas Chatron, Carine Abel, Sophie Dupuis-Girod, Alice Poisson, Julien Buratti, Cyril Mignot, Alexandra Afenjar, Sandra Whalen, Perrine Charles, Solveig Heide, Linda Mouthon, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Anne-Sophie Briffaut, Marie-Laure Asensio, Christophe Philippe, Christel Thauvin-Robinet, Delphine Héron, Massimiliano Rossi, Nicolas Meunier-Bellard, Marcela Gargiulo, Christine Peyron, Christine Binquet, Laurence Olivier-Faivre
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study). European journal of human genetics : EJHG (2024)
Eleonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaëtan Lesca, Audrey Putoux, Linda Pons, Amandine Cadenes, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Myrtille Spetchian, Meriem Yousfi, Dominique Salvi, Elodie Gautier, Antonio Vitobello, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frédéric Tran Mau Them, Anne Faudet, Boris Keren, Audrey Labalme, Nicolas Chatron, Carine Abel, Sophie Dupuis-Girod, Alice Poisson, Julien Buratti, Cyril Mignot, Alexandra Afenjar, Sandra Whalen, Perrine Charles, Solveig Heide, Linda Mouthon, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Anne-Sophie Briffaut, Marie-Laure Asensio, Christophe Philippe, Christel Thauvin-Robinet, Delphine Héron, Massimiliano Rossi, Nicolas Meunier-Bellard, Marcela Gargiulo, Christine Peyron, Christine Binquet, Laurence Olivier-Faivre
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study). European journal of human genetics : EJHG 32 (9) (2024)
Mio Aerden, Anne Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoit Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frédéric Tran Mau Them, Eleonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amelie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette J V Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke M van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. European journal of human genetics : EJHG (2023)
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan Sami Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Silvio Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah J Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy L Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha Saad Zaki, Federizo Zara, Gaëtan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Feyzollah Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher A Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European journal of human genetics : EJHG (2023)
Emilie Tisserant, Antonio Vitobello, Davide Callegarin, Simon Verdez, Ange-Line Bruel, Ludwig Serge Aho Glélé, Arthur Sorlin, Eleonore Viora-Dupont, Marina Konyukh, Nathalie Marle, Sophie Nambot, Sebastien Moutton, Caroline Racine, Aurore Garde, Julian Delanne, Frédéric Tran Mau Them, Christophe Philippe, Paul Kuentz, Marlène Poulleau, Muriel Payet, Charlotte Poe, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Anne-Laure Mosca-Boidron, Julien Thevenon, Yannis Duffourd, Patrick Callier
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH. Annals of human genetics 86 (4) (2022)
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)
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frédéric Tran Mau Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? European journal of human genetics : EJHG 30 (8) (2022)
Simon Verdez, Quentin Thomas, Philippine Garret, Céline Verstuyft, Emilie Tisserant, Antonio Vitobello, Frédéric Tran Mau Them, Christophe Philippe, Marc Bardou, Maxime Luu, Abderrahmane Bourredjem, Patrick Callier, Christel Thauvin-Robinet, Nicolas Picard, Laurence Faivre, Yannis Duffourd
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients. The pharmacogenomics journal 22 (5-6) (2022)
Stephanie Moortgat, Isabelle Manfroid, Hélène Pendeville, Stephen Freeman, Jordane Bourdouxhe, Valérie Benoit, Ahmad Merhi, Christophe Philippe, Laurence Olivier-Faivre, Isabelle Maystadt
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants. Human mutation 42 (7) (2021)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Memoona Ramzan, Christophe Philippe, Inna A Belyantseva, Yoko Nakano, Cristina Fenollar-Ferrer, Risa Tona, Rizwan Yousaf, Rasheeda Bashir, Ayesha Imtiaz, Rabia Faridi, Zunaira Munir, Hafiza Idrees, Midhat Salman, Sophie Nambot, Antonio Vitobello, Souad Kartti, Oumaima Zarrik, P Dane Witmer, Nara Lygia de Macena Sobreira, Azeddine Ibrahimi, Botond Banfi, Sebastien Moutton, Thomas B Friedman, Sadaf Naz
Variants of human CLDN9 cause mild to profound hearing loss. Human mutation 42 (10) (2021)
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)
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

Christophe Philippe