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Katherine L. Helbig | Researchclopedia

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Katherine L. Helbig

Children's Hospital of Philadelphia ORCID

145

Works

9,751

Citations

54

h-index

100

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

Affiliations

Université Claude Bernard Lyon 12023–2023

Centre National de la Recherche Scientifique2020–2023

Children's Hospital of Philadelphia2017–2025

Inserm2023–2023

Tel Aviv University2016–2016

Top Works

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

Markus Wolff,Katrine M. Johannesen,et al.

2017567 citations

Epilepsy research and treatment

Ion channel regulation and function

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Katherine L. Helbig,Heather C. Mefford,et al.

2009555 citations

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

Heather C. Mefford,Hiltrud Muhle,et al.

2010476 citations

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Carolien G. F. de Kovel,Holger Trucks,et al.

2009448 citations

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

Katherine L. Helbig,Kelly D. Farwell Hagman,et al.

2016357 citations

De novo variants in neurodevelopmental disorders with epilepsy

Henrike Heyne,Tarjinder Singh,et al.

2018312 citations

<i>STXBP1</i> encephalopathy

Hannah Stamberger,Marina Nikanorova,et al.

2016310 citations

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Leanne M. Dibbens,Saul A. Mullen,et al.

2009263 citations

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer,Hongjie Yuan,et al.

2017253 citations