Sabine Grønborg

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

Sarah Weckhuysen, Vanja Ivanović, Rik Hendrickx et al. · Neurology · 2013 · 218 citations · Full text

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 138 citations · Full text

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

Neonatal nonepileptic myoclonus is a prominent clinical feature of <i><scp>KCNQ</scp>2</i> gain‐of‐function variants R201C and R201H

Sarah B. Mulkey, Bruria Ben‐Zeev, Joost Nicolai et al. · Epilepsia · 2017 · 104 citations · Full text

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 102 citations · Full text