Sébastien Schmitt

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

Solena Le Scouarnec, Matilde Karakachoff, Jean‐Baptiste Gourraud et al. · Human Molecular Genetics · 2015 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Selective GlyT1 Inhibitors: Discovery of [4-(3-Fluoro-5-trifluoromethylpyridin-2-yl)piperazin-1-yl][5-methanesulfonyl-2-((<i>S</i>)-2,2,2-trifluoro-1-methylethoxy)phenyl]methanone (RG1678), a Promising Novel Medicine To Treat Schizophrenia

Emmanuel Pinard, Alexander Alanine, Daniela Alberati et al. · Journal of Medicinal Chemistry · 2010 · 134 citations · Full text

Pharmacy, Medicinal Chemistry, Pharmacology +13

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis

Guylène Le Meur, Pierre Lebranchu, Fanny Billaud et al. · Molecular Therapy · 2017 · 130 citations · Full text

Medicine, Molecular Biology, Ophthalmology +16

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Slavé Petrovski, Sébastien Küry, Candace T. Myers et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14