Mélanie Fradin

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 270 citations · Full text

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch et al. · Circulation · 2019 · 245 citations · Full text

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli et al. · European Journal of Human Genetics · 2014 · 121 citations · Full text

Genetics, Genotype–phenotype Correlation, Molecular Genetics +3

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Marie Coutelier, Giulia Coarelli, Marie‐Lorraine Monin et al. · Brain · 2017 · 111 citations · Full text

Neurogenomics, Neurological Disorder, Genetics +23

Identification of CANT1 Mutations in Desbuquois Dysplasia

Céline Huber, Bénédicte Oulès, Marta Bértoli et al. · The American Journal of Human Genetics · 2009 · 103 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5