Salima El Chehadeh

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 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 136 citations · Full text

Life Sciences, Genetics, Neuroscience +13

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 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2019 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Salima El Chehadeh, Wilhelmina S. Kerstjens‐Frederikse, Julien Thévenon et al. · European Journal of Human Genetics · 2016 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17