Ingo Helbig
Children's Hospital of Philadelphia(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Genomic variations and chromosomal abnormalities, Ion channel regulation and function
Most-Cited Works
- → The Human Phenotype Ontology in 2021(2020)1,208 cited
- → The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data(2013)837 cited
- → The Human Phenotype Ontology in 2017(2016)796 cited
- → Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders(2017)566 cited
- → Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies(2018)499 cited
- → Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes(2013)437 cited
- → Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy(2016)357 cited
- → The Human Phenotype Ontology in 2024: phenotypes around the world(2023)336 cited
- → De novo variants in neurodevelopmental disorders with epilepsy(2018)312 cited
- → STXBP1 encephalopathy(2016)310 cited