Anne Dieux‐Coëslier

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Valentina Grampa, Marion Delous, Mohamad Zaidan et al. · PLoS Genetics · 2016 · 92 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Jamal Ghoumid, Florence Petit, Muriel Holder‐Espinasse et al. · European Journal of Human Genetics · 2015 · 62 citations

Life Sciences, Genetics, Molecular Genetics +11

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Theodore G. Drivas, Dong Li, Divya Nair et al. · European Journal of Human Genetics · 2020 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

Guilhem Solé, Isabelle Coupry, Caroline Rooryck et al. · Journal of Neurology Neurosurgery & Psychiatry · 2009 · 48 citations

Life Sciences, Genetics, Molecular Genetics +10

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Thomas Smol, Florence Petit, Amélie Piton et al. · Neurogenetics · 2018 · 44 citations

Life Sciences, Genetics, Molecular Genetics +14