Sébastien Schmitt - Concepedia

Author

Sébastien Schmitt

Génétique Médicale & Génomique Fonctionelle ORCID

Also Known As

S Chantot-Bastaraud, S Hamamah, S Schmitt, S. SCHMITT, S. Schmitt, Sbastien Schmitt, Schmitt, S, Schmitt, S., Schmitt, Sébastien, Sebastien Schmitt

101

Publications

1.8K

Citations

H-Index

Concepts

All Affiliations

Génétique Médicale & Génomique Fonctionelle Inserm Centre National de la Recherche Scientifique Centre Hospitalier Universitaire de Nantes Nantes Université

About

Sébastien Schmitt is an author at Génétique Médicale & Génomique Fonctionelle specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	18	898
2	Natural Sciences	5	5	179
3	Engineering	3	3	64
4	Health Sciences	1	1	14
5	Public Health	1	1	13

Sébastien Schmitt

Publications

1.5K

Citations

H-Index

Page 1

	Year	Citations
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification	2017	193
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, Human Molecular Genetics	2015	135
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, Journal of Medicinal Chemistry Psychotropic MedicationHerg Channel SelectivityPsychopharmacologyCompound 10APharmacotherapy	2010	133
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis Guylène Le Meur, Pierre Lebranchu, Fanny Billaud, Molecular Therapy	2017	126
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures Slavé Petrovski, Sébastien Küry, Candace T. Myers, The American Journal of Human Genetics Mendelian DisorderBrain DevelopmentGenetic DisorderGeneticsNeurology	2016	116
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder Sébastien Küry, Thomas Besnard, Frédéric Ebstein, The American Journal of Human Genetics Molecular NeuroscienceDevelopmental BiologyDe Novo DisruptionSyndromic Neurodevelopmental DisorderMedicine	2017	107
Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome Julien Barc, François Briec, Sébastien Schmitt, Journal of the American College of Cardiology Long Qt SyndromeGenes AssociatedGenetic DisorderMedicineGenetics	2010	80
Novel Triazolopyrimidine‐Derived Cannabinoid Receptor 2 Agonists as Potential Treatment for Inflammatory Kidney Diseases Matthias Nettekoven, Jean‐Michel Adam, Stefanie Bendels, ChemMedChem Renal InflammationPharmacotherapyCannabinoid PharmacologyPharmaceutical ChemistryInflammation	2015	56
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability Bertrand Isidor, Sébastien Küry, Jill A. Rosenfeld, Human Mutation GeneticsMolecular BiologyMolecular GeneticsCytoskeletonDisease Gene Identification	2016	51
Pretargeted radioimmunotherapy and SPECT imaging of peritoneal carcinomatosis using bioorthogonal click chemistry: probe selection and first proof-of-concept Aurélie Rondon, Sébastien Schmitt, Arnaud Briat, Theranostics	2019	35

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