Salima El Chehadeh
Inserm(FR)Hôpitaux Universitaires de Strasbourg(FR)Génétique Médicale & Génomique Fonctionelle(FR)Université de Strasbourg(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Connective tissue disorders research
Most-Cited Works
- → Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing(2017)136 cited
- → Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life(2014)133 cited
- → Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome(2017)76 cited
- → Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation(2022)74 cited
- → Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients(2019)67 cited
- → Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features