Christina Hung

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Karin Tuschl, Esther Meyer, Leonardo E. Valdivia et al. · Nature Communications · 2016 · 323 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Rare variants in <i>SOS2</i> and <i>LZTR1</i> are associated with Noonan syndrome

Guilherme Lopes Yamamoto, Meire Aguena, Monika Goś et al. · Journal of Medical Genetics · 2015 · 245 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Lina Liang, Xia Li, Sébastien Moutton et al. · Human Molecular Genetics · 2019 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

McKenna Kelly, Meredith Park, Ivana Mihalek et al. · Epilepsia · 2019 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon et al. · The American Journal of Human Genetics · 2019 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13