Elisabeth Flori

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. · Human Molecular Genetics · 2004 · 364 citations · Full text

Restrictive Dermopathy, Genetics, Nuclear Lamina +17

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

SRPX2 mutations in disorders of language cortex and cognition

Patrice Roll, Gabrielle Rudolf, Sandrine Pereira et al. · Human Molecular Genetics · 2006 · 256 citations

Neurological Disorder, Neurolinguistics, Genetics +17

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau, Marie Goulet, David Geneviève et al. · The American Journal of Human Genetics · 2009 · 255 citations · Full text

Genetic Disorder, Genetics, Short Rib-polydactyly Syndrome +4