Sébastien Schmitt
Génétique Médicale & Génomique Fonctionelle(FR)
Publications by Year
Research Areas
Medical Imaging Techniques and Applications, Trace Elements in Health, Radiopharmaceutical Chemistry and Applications, Aluminum toxicity and tolerance in plants and animals, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Most-Cited Works
- → De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability(2017)197 cited
- → An update on mutations of theSLC39A4gene in acrodermatitis enteropathica(2009)139 cited
- → Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome(2015)135 cited
- → Selective GlyT1 Inhibitors: Discovery of [4-(3-Fluoro-5-trifluoromethylpyridin-2-yl)piperazin-1-yl][5-methanesulfonyl-2-((S)-2,2,2-trifluoro-1-methylethoxy)phenyl]methanone (RG1678), a Promising Novel Medicine To Treat Schizophrenia(2010)134 cited
- → Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis(2017)127 cited
- → Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures(2016)117 cited