Johanna Jähn
Mundipharma (United Kingdom)(GB)Takeda (Austria)(AT)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders
Most-Cited Works
- → 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
- → Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes(2013)437 cited
- → The phenotypic spectrum of SCN8A encephalopathy(2015)283 cited
- → A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy(2019)130 cited
- → CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures(2015)99 cited
- → Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood(2018)89 cited
- → Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features(2017)70 cited
- → Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy(2015)70 cited
- → Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly(2014)62 cited