Tobias Brunger

Koeln, NW 50931, Germany

Last Updated: 09/26/2026

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Found 35 publications

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disorders.

Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: February 12, 2026

Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disorders.

Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: February 12, 2026

Accurate prediction of gain- and loss-of-function missense variants in GABAA receptors.

Accurate prediction of gain- and loss-of-function missense variants in GABAA receptors.

Journal: EBioMedicine

Published: January 05, 2026

The International Classification of Cognitive Disorders in Epilepsy (IC-CoDE) Portal: An open source resource for neuropsychological research in epilepsy.

The International Classification of Cognitive Disorders in Epilepsy (IC-CoDE) Portal: An open source resource for neuropsychological research in epilepsy.

Journal: Epilepsia

Published: December 04, 2025

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Journal: Epilepsia

Published: October 31, 2025

Insights Into DEPDC5-Related Epilepsy From 586 People: Variant Penetrance, Phenotypic Spectrum, and Treatment Outcomes.

Insights Into DEPDC5-Related Epilepsy From 586 People: Variant Penetrance, Phenotypic Spectrum, and Treatment Outcomes.

Journal: Neurology

Published: October 21, 2025

Underutilization of syndrome-specific ICD-10 codes for genetic epilepsies: Implications for precision medicine.

Underutilization of syndrome-specific ICD-10 codes for genetic epilepsies: Implications for precision medicine.

Journal: Epilepsia

Published: September 12, 2025

Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology.

Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology.

Journal: Database : the journal of biological databases and curation

Published: July 10, 2025

Long-term seizure reduction with vagus nerve stimulation in Dravet syndrome.

Long-term seizure reduction with vagus nerve stimulation in Dravet syndrome.

Journal: Developmental medicine and child neurology

Published: January 22, 2025

Long-Term Seizure Reduction Associated with Vagal Nerve Stimulation in Dravet Syndrome.

Long-Term Seizure Reduction Associated with Vagal Nerve Stimulation in Dravet Syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: January 20, 2025

Showing 1-12 of 35

Last Updated: 09/26/2026