Katrine M. Johannesen

Copenhagen, Denmark

Last Updated: 09/26/2026

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Found 60 publications

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

Journal: Clinical genetics

Published: May 11, 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

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

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Journal: Neurology

Published: June 26, 2025

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

Journal: The Journal of clinical investigation

Published: December 17, 2024

A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps.

A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps.

Journal: Clinical genetics

Published: October 29, 2024

Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions.

Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions.

Journal: Clinical genetics

Published: April 09, 2024

Sleep disturbances in SCN8A-related disorders.

Sleep disturbances in SCN8A-related disorders.

Journal: Epilepsia open

Published: February 26, 2024

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

Journal: EBioMedicine

Published: January 05, 2024

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Journal: Epilepsia

Published: November 27, 2023

Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.

Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: October 10, 2023

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.

Journal: American journal of human genetics

Published: September 19, 2023

Showing 1-12 of 60

Last Updated: 09/26/2026