Chiara Klockner

Philipp Rosenthal Street 55
Leipzig, SN 04103, Germany

Last Updated: 09/26/2026

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Found 25 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

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: July 26, 2024

Ligand distances as key predictors of pathogenicity and function in NMDA receptors.

Ligand distances as key predictors of pathogenicity and function in NMDA receptors.

Journal: Human molecular genetics

Published: May 25, 2024

Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors.

Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors.

Journal: medRxiv : the preprint server for health sciences

Published: May 20, 2024

Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.

Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: May 10, 2024

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: February 03, 2024

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Journal: American journal of human genetics

Published: November 09, 2023

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.

Journal: Communications biology

Published: March 23, 2023

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Journal: Clinical genetics

Published: January 23, 2023

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

Journal: Brain : a journal of neurology

Published: December 16, 2022

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.

Journal: Bioinformatics (Oxford, England)

Published: June 14, 2022

Showing 1-12 of 25

Last Updated: 09/26/2026