Helbig Lab Publications

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Below is a list of selected publications from the Helbig Lab.

Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study
Lancet Digit Health · April, 2023
Child neurology telemedicine: Analyzing 14 820 patient encounters during the first year of the COVID-19 pandemic
Dev Med Child Neurol · September, 2022
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
Genet Med · March, 2021
Child Neurology Telemedicine: Understanding the Data We Have and Finding the Patients We Do Not See
Pediatr Neurol · March, 2021
Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1
J Allergy Clin Immunol · February, 2021
The Human Phenotype Ontology in 2021
Nucleic Acids Res · January, 2021
Design and implementation of electronic health record common data elements for pediatric epilepsy: Foundations for a learning health care system
Epilepsia · January, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation
Genet Med · December, 2020
Semantic similarity analysis reveals robust gene-disease relationships in developmental and epileptic encephalopathies
Am J Hum Genet · October, 2020
Early-onset genetic epilepsies reaching adult clinic
Brain · March, 2020
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
Nucleic Acids Res · January, 2020
A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathy
Am J Hum Genet · June, 2019
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria
Hum Mutat · November, 2018
De novo variants in neurodevelopmental disorders with epilepsy
Nat Genet · July, 2018
Mutations in PMPCB encoding the catalytic subunit of the mitochondrial presequence protease cause neurodegeneration in early childhood
Am J Hum Genet · April, 2018
DNM1 encephalopathy: A new disease of vesicle fission
Neurology · January, 2017
The Human phenotype ontology in 2017
Nucleic Acids Res · January, 2017
De novo loss- or gain-offunction mutations in KCNA2 cause epileptic encephalopathy
Nat Genet · April, 2015
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Nucleic Acids Res · January, 2014
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Nat Genet · September, 2013