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Brain Communications|March 25, 2024
Healthcare utilization and clinical characteristics of genetic epilepsy in electronic health recordsChristian M Boßelmann, Alina Ivaniuk, Mark St John, et al.
Medrxiv : the Preprint Server for Health Sciences|May 20, 2024
Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptorsLudovica Montanucci, Tobias Brünger, Nisha Bhattarai, et al.
Human Molecular Genetics|November 13, 2024
Ligand distances as key predictors of pathogenicity and function in NMDA receptorsLudovica Montanucci, Tobias Brünger, Nisha Bhattarai, 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.
Ebiomedicine|August 3, 2026
Accurate prediction of gain- and loss-of-function missense variants in GABAA receptorsChristian M Boßelmann, Sebastian Ortiz, Rebekka Dahl, et al.
Nature Communications|November 30, 2024
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFRChristian M Boßelmann, Costin Leu, Tobias Brünger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2024
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individualsPeter D Galer, Shridhar Parthasarathy, Julie Xian, et al.
Ebiomedicine|January 22, 2024
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaHang Lyu, Christian M Boßelmann, Katrine M Johannesen, et al.
Clinical Genetics|May 26, 2022
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorderMaria B Christensen, Amanda M Levy, Nazanin A Mohammadi, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.
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