Salima El Chehadeh

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon, Mathieu Milh, François Feillet et al. · The American Journal of Human Genetics · 2014 · 133 citations · Full text

First Days, Neurobiology Of Disease, Neurological Disorder +10

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz, Judith St‐Onge, Yannis Duffourd et al. · Genetics in Medicine · 2017 · 133 citations · Full text

Molecular Diagnosis, Genetic Testing, Mendelian Disorder +9

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Marine Legendre, Véronique Abadie, Tania Attié‐Bitach et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 75 citations · Full text

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2019 · 64 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet, Laurence Faivre, Jeanne Amiel et al. · Journal of Medical Genetics · 2018 · 61 citations · Full text