Ellen Knierim

Systematic Comparison of Three Methods for Fragmentation of Long-Range PCR Products for Next Generation Sequencing

Ellen Knierim, Barbara Lucke, Jana Marie Schwarz et al. · PLoS ONE · 2011 · 149 citations · Full text

Life Sciences, Biology, Molecular Biology +16

Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies

Andreas Wegener-Panzer, Robert Cleaveland, Eva‐Maria Wendel et al. · Neurology Neuroimmunology & Neuroinflammation · 2020 · 101 citations · Full text

Medicine, Neurology, Pediatrics +17

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

D T Burns, Sandra Donkervoort, Juliane Müller et al. · The American Journal of Human Genetics · 2018 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

De novo mutation in <i>ELOVL1</i> causes ichthyosis, <i>acanthosis nigricans</i>, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy

Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez et al. · Journal of Medical Genetics · 2018 · 78 citations

Life Sciences, Biochemistry, Genetics +17

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Ellen Knierim, Hiromi Hirata, Nicole I. Wolf et al. · The American Journal of Human Genetics · 2016 · 75 citations · Full text

Medicine, Genetics, Molecular Genetics +10