Christel Castro

<i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Julia Vodopiutz, Rainer Seidl, Daniela Prayer et al. · Human Mutation · 2015 · 53 citations · Full text

Glomerular Disease, Genetics, Genetic Epidemiology +21

A novel deletion in <i>ZBTB24</i> in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

Éliane Chouery, Joelle Abou‐Ghoch, Sandra Corbani et al. · Clinical Genetics · 2011 · 50 citations

Developmental Anomaly, Lebanese Family, Novel Deletion +14

Identification of Variants in the 4q35 Gene<i>FAT1</i>in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

Francesca Puppo, Eugénie Dionnet, Marie-Cécile Gaillard et al. · Human Mutation · 2015 · 46 citations · Full text

Genetics, Genetic Epidemiology, Pathology +16

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

Lara El-Bazzal, Khalil Rihan, Nathalie Bernard‐Marissal et al. · Human Molecular Genetics · 2019 · 34 citations · Full text

Two novel missense mutations in <i>FGD4/FRABIN</i> cause Charcot‐Marie‐Tooth type 4H (CMT4H)

Cécile Baudot, Clothilde Estève, Christel Castro et al. · Journal of the Peripheral Nervous System · 2012 · 20 citations

Genetics, Genetic Epidemiology, Molecular Biology +16