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The Journal of Molecular Diagnostics : JMD|July 30, 2023
Genomic Data Heterogeneity across Molecular Diagnostic Laboratories: A Real-World Connect Myeloid Disease Registry Perspective on Variabilities in Genomic Assay Methodology and ReportingJay L Patel, Harry P Erba, Michael R Savona, et al.Annals of Neurology|September 13, 2025
Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental StudyAdeline Ngoh, Maria Clark, Rebecca Greenaway, et al.Brain : a Journal of Neurology|March 20, 2014
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcomePhilippa B Mills, Stephane S M Camuzeaux, Emma J Footitt, et al.Epilepsia|October 15, 2013
Clinical features, proximate causes, and consequences of active convulsive epilepsy in AfricaSymon M Kariuki, William Matuja, Albert Akpalu, et al.Brain : a Journal of Neurology|December 25, 2015
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyIrina T Zaharieva, Michael G Thor, Emily C Oates, et al.Neurology|January 23, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyMariacristina Scoto, Alexander M Rossor, Matthew B Harms, et al.Epilepsia|January 10, 2017
Current standards of neuropsychological assessment in epilepsy surgery centers across EuropeViola Lara Vogt, Marja Äikiä, Antonio Del Barrio, et al.Pageof 13