Julien Thévenon
Centre National de la Recherche Scientifique(FR)Inserm(FR)Centre Hospitalier Universitaire de Grenoble(FR)Université Grenoble Alpes(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Congenital heart defects research
Most-Cited Works
- → Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing(2014)271 cited
- → Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test(2016)267 cited
- → The landscape of epilepsy-related GATOR1 variants(2018)237 cited
- → Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development(2020)213 cited
- → PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy(2013)202 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