Ingo Helbig

The Human Phenotype Ontology in 2021

Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu et al. · Nucleic Acids Research · 2020 · 1.2K citations · Full text

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 834 citations · Full text

Engineering, Genetics, Updated Hpo Database +19

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

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 558 citations · Full text

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Bassel Abou‐Khalil, Pauls Auce, Andreja Avberšek et al. · Nature Communications · 2018 · 493 citations · Full text

Epilepsy Therapies, Genetics, Genetic Epidemiology +22

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Johannes R. Lemke, Dennis Lal, Eva M. Reinthaler et al. · Nature Genetics · 2013 · 436 citations

Neurobiology Of Disease, Neurophysiology, Genetics +10