Bitten Schönewolf‐Greulich

Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants

Tristan T. Sands, Francesco Miceli, Gaëtan Lesca et al. · Annals of Neurology · 2019 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Megalencephalic leukoencephalopathy with subcortical cysts

Eline M. Hamilton, Pınar Tektürk, Fia Cialdella et al. · Neurology · 2018 · 81 citations · Full text

Medicine, Neurology, Neuroscience +9

DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés et al. · Genetics in Medicine · 2021 · 52 citations · Full text

Medicine, Neurology, Neuroscience +14

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Dineke Westra, Meyke Schouten, Bas C. Stunnenberg et al. · Journal of Neuromuscular Diseases · 2019 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( <i>KIF1A</i> )

Simranpreet Kaur, Nicole J. Van Bergen, Kristen J. Verhey et al. · Human Mutation · 2020 · 39 citations · Full text

Medicine, Genetics, Molecular Genetics +14