Jean‐Paul Bonnefont
Inserm(FR)Université Paris Cité(FR)Assistance Publique – Hôpitaux de Paris(FR)Institut des Maladies Génétiques Imagine(FR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, RNA modifications and cancer, Folate and B Vitamins Research, Prenatal Screening and Diagnostics
Most-Cited Works
- → Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects(2004)623 cited
- → Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.(1990)471 cited
- → Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy(2000)353 cited
- → Recognition and management of fatty acid oxidation defects: A series of 107 patients(1999)337 cited
- → Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases(2010)315 cited
- → Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.(1997)304 cited