Christian M. Bosselmann

Hoppe Seyler Str. 3
Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 47 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

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

Journal: Epilepsia

Published: February 25, 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

Environmental and treatment-related factors associated with developmental outcomes in genetic epilepsies.

Environmental and treatment-related factors associated with developmental outcomes in genetic epilepsies.

Journal: Epilepsia

Published: January 02, 2026

Function Matters: Variant Mechanisms in the Era of Precision Medicine.

Function Matters: Variant Mechanisms in the Era of Precision Medicine.

Journal: Neuropediatrics

Published: November 06, 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

Risk Management in "Other Clinical Investigations" According to Art. 82 MDR - Lessons Learnt from the EDITh Project.

Risk Management in "Other Clinical Investigations" According to Art. 82 MDR - Lessons Learnt from the EDITh Project.

Journal: Studies in health technology and informatics

Published: October 03, 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

To the editors: SCN1A gain-of-function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.

To the editors: SCN1A gain-of-function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.

Journal: Epilepsia open

Published: August 06, 2025

Showing 1-12 of 47

Last Updated: 09/26/2026