Andrea Bevot

The phenotypic spectrum of <i>SCN8A</i> encephalopathy

Jan Larsen, Gemma L. Carvill, Elena Gardella et al. · Neurology · 2015 · 285 citations · Full text

Medicine, Genetics, Neurology +17

Extending the <i>KCNQ2</i> encephalopathy spectrum

Sarah Weckhuysen, Vanja Ivanović, Rik Hendrickx et al. · Neurology · 2013 · 220 citations · Full text

Life Sciences, Genetics, Neurology +16

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi‐Goutières syndrome

Georgia Ramantani, Jürgen Kohlhase, Christoph Hertzberg et al. · Arthritis & Rheumatism · 2010 · 210 citations

Life Sciences, Genetics, Molecular Genetics +16

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Lutz Garbes, Kyung‐Ho Kim, Angelika Rieß et al. · The American Journal of Human Genetics · 2015 · 175 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Postnatal Human Cytomegalovirus Infection in Preterm Infants Has Long-Term Neuropsychological Sequelae

Katharina F. Brecht, Rangmar Goelz, Andrea Bevot et al. · The Journal of Pediatrics · 2014 · 99 citations

Medicine, Neuroscience, Pediatrics +12