H. Baumann

Novel <i>GNB1</i> mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Katja Lohmann, Ikuo Masuho, Dipak N. Patil et al. · Human Molecular Genetics · 2017 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Utility and implications of exome sequencing in early‐onset Parkinson's disease

Joanne Trinh, Katja Lohmann, H. Baumann et al. · Movement Disorders · 2018 · 50 citations · Full text

Life Sciences, Genetics, Neurology +17

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

Marija Dulovic‐Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy et al. · The American Journal of Human Genetics · 2019 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2

Sinem Tunç, Marija Dulovic‐Mahlow, H. Baumann et al. · The Cerebellum · 2019 · 21 citations

Life Sciences, Genetics, Molecular Genetics +17

Linking Penetrance and Transcription in <scp>DYT‐THAP1</scp>: Insights From a Human <scp>iPSC</scp>‐Derived Cortical Model

H. Baumann, Fabian Ott, Joachim Weber et al. · Movement Disorders · 2021 · 17 citations · Full text

Life Sciences, Genetics, Neuroscience +17