Mélanie Fradin
Penn Presbyterian Medical Center(US)Inserm(FR)Centre Hospitalier Universitaire de Grenoble(FR)Center for the Study of Social Policy(US)Hôpital Nord(FR)CIC Rennes(FR)Institut de génétique et de développement de Rennes(FR)Centre Hospitalier Universitaire de Rennes(FR)Génétique Médicale & Génomique Fonctionelle(FR)Folkhälsans Forskningscentrum(FI)Université de Rennes(FR)University of Pennsylvania(US)Université Grenoble Alpes(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing(2014)271 cited
- → Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies(2019)250 cited
- → GRIN2A -related disorders: genotype and functional consequence predict phenotype(2018)223 cited
- → New insights into genotype–phenotype correlation for GLI3 mutations(2014)121 cited
- → A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies(2017)112 cited
- → Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients(2017)107 cited