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Katrine M. Johannesen | Researchclopedia

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Katrine M. Johannesen

Rigshospitalet ORCID

103

Works

3,199

Citations

25

h-index

46

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Epilepsy research and treatment

Affiliations

University of Copenhagen2022–2024

United States Nuclear Regulatory Commission2020–2020

Hudson Institute2024–2024

University of Southern Denmark2015–2025

School of the Art Institute of Chicago2016–2016

Top Works

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff,Katrine M. Johannesen,et al.

2017567 citations

Neurological disorders and treatments

Genomic variations and chromosomal abnormalities

Lemierre&rsquo;s syndrome: current perspectives on diagnosis and management

Katrine M. Johannesen,Uffe Bødtger

2016176 citations

The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

Elena Gardella,Carla Marini,et al.

2018158 citations

Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

Katrine M. Johannesen,Elena Gardella,et al.

2018147 citations

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen,Yuanyuan Liu,et al.

2021140 citations

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Henrike Heyne,David Báez-Nieto,et al.

2020139 citations

Phenotypic spectrum of <i>GABRA1</i>

Katrine M. Johannesen,Carla Marini,et al.

2016138 citations

Neuronal mechanisms of mutations in <i>SCN8A</i> causing epilepsy or intellectual disability

Yuanyuan Liu,Julian Schubert,et al.

2018130 citations

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

Rikke S. Møller,Line H.G. Larsen,et al.

2016127 citations