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Epilepsia|October 21, 2018
Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsiesLisa-Marie Niestroj, Juanjiangmeng Du, Michael Nothnagel, et al.
Genome Research|December 25, 2019
Identification of pathogenic variant enriched regions across genes and gene familiesEduardo Pérez-Palma, Patrick May, Sumaiya Iqbal, et al.
Human Mutation|November 30, 2019
SCN1A variants from bench to bedside-improved clinical prediction from functional characterizationAndreas Brunklaus, Stephanie Schorge, Alexander D Smith, et al.
Bioinformatics (Oxford, England)|May 16, 2019
Variant Score Ranker-a web application for intuitive missense variant prioritizationJuanjiangmeng Du, Monica Sudarsanam, Eduardo Pérez-Palma, et al.
Plos One|July 29, 2016
Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's DiseaseKerstin Becker, Sabine Siegert, Mohammad Reza Toliat, 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.
Epilepsia|February 25, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practiceAndreas Brunklaus, Juanjiangmeng Du, Felix Steckler, et al.
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