Christophe Philippe

Key clinical features to identify girls with CDKL5 mutations

Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas et al. · Brain · 2008 · 288 citations

Life Sciences, Genetics, Neurology +14

The Signal Transducer and Activator of Transcription STAT5b Gene Is a New Partner of Retinoic Acid Receptor   in Acute Promyelocytic-Like Leukaemia

Cécile Arnould, Christophe Philippe, Violaine Bourdon et al. · Human Molecular Genetics · 1999 · 262 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

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

Silvia Bione, Cinzia Sala, M. Chiara Manzini et al. · The American Journal of Human Genetics · 1998 · 258 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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

Christophe Béroud, Sylvie Tuffery‐Giraud, Masafumi Matsuo et al. · Human Mutation · 2006 · 197 citations

Life Sciences, Genetics, Molecular Genetics +13

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot, Julien Thévenon, Paul Kuentz et al. · Genetics in Medicine · 2017 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17