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Nucleic Acids Research|May 14, 2020
MISCAST: MIssense variant to protein StruCture Analysis web SuiTeSumaiya Iqbal, David Hoksza, Eduardo Pérez-Palma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 7, 2019
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsyHenrike O Heyne, Mykyta Artomov, Florian Battke, et al.
Bioinformatics (Oxford, England)|April 27, 2023
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants onlineMarie Macnee, Eduardo Pérez-Palma, Tobias Brünger, et al.
European Journal of Human Genetics : EJHG|July 31, 2019
Assessment of genetic variant burden in epilepsy-associated brain lesionsLisa-Marie Niestroj, Patrick May, Mykyta Artomov, et al.
Epilepsia|March 26, 2026
Underutilization of syndrome-specific ICD-10 codes for genetic epilepsies: Implications for precision medicineÉmile Moura Coelho da Silva, Tobias Brünger, Gary Taylor, et al.
Database : the Journal of Biological Databases and Curation|February 16, 2026
Epilepsy disease classification: a community effort to enhance the Mondo Disease OntologyNicole Vasilevsky, Sarah Gehrke, Kathleen Mullen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 14, 2020
Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disordersJuanjiangmeng Du, Sean Simmons, Andreas Brunklaus, et al.
EMBO Molecular Medicine|November 29, 2015
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyBorislav Dejanovic, Tania Djémié, Nora Grünewald, et al.
Neurobiology of Disease|February 25, 2014
Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsyBorislav Dejanovic, Dennis Lal, Claudia B Catarino, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 27, 2020
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variantsSumaiya Iqbal, Eduardo Pérez-Palma, Jakob B Jespersen, et al.
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