Jean‐Paul Bonnefont

机构：Inserm, Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Institut des Maladies Génétiques Imagine · ORCID：0000-0002-4235-1197

发表论文 289 篇 · 总被引 12284 次 · h-index 61

代表论文

• FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta (2018 · Journal of Medical Genetics · 被引 79)
• Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features (2018 · Journal of Medical Genetics · 被引 63)
• Hyperketotic States Due to Inherited Defects of Ketolysis (2017 · Enzyme · 被引 60)
• Epilepsy with migrating focal seizures (2019 · Neurology Genetics · 被引 56)
• Could Failure in Preimplantation Genetic Diagnosis Justify Editing the Human Embryo Genome? (2018 · Cell stem cell · 被引 46)
• Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism (2018 · Human Mutation · 被引 43)