François Feillet

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 265 citations

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach et al. · The American Journal of Human Genetics · 2014 · 152 citations · Full text

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

Stefanie Keil, Karen Anjema, Francjan J. van Spronsen et al. · PEDIATRICS · 2013 · 79 citations · Full text

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study

Nathalie Guffon, Bénédicte Héron, B. Chabrol et al. · Orphanet Journal of Rare Diseases · 2015 · 71 citations · Full text

Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation

Raphaël Teissier, Emmanuel Nowak, Murielle Assoun et al. · Journal of Inherited Metabolic Disease · 2012 · 59 citations