Christophe Philippe
Inserm(FR)Université de Bourgogne(FR)Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine(FR)CHU Dijon Bourgogne(FR)Centre Hospitalier Régional de Metz-Thionville(FR)Université Bourgogne Franche-Comté(FR)Fédération Francophone de Cancérologie Digestive(FR)Centre de recherche Translationnelle en Médecine moléculaire(FR)Laboratoire de Génétique Médicale(FR)Université Bourgogne Europe(FR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, RNA modifications and cancer, Congenital heart defects research
Most-Cited Works
- → Key clinical features to identify girls with CDKL5 mutations(2008)286 cited
- → The Signal Transducer and Activator of Transcription STAT5b Gene Is a New Partner of Retinoic Acid Receptor in Acute Promyelocytic-Like Leukaemia(1999)262 cited
- → A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility(1998)258 cited
- → Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis(2017)197 cited
- → Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy(2006)196 cited
- → The three stages of epilepsy in patients with CDKL5 mutations