Konrad Platzer

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 249 citations · Full text

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan et al. · PLoS ONE · 2013 · 225 citations · Full text

Cnv Analysis, Genetics, Genetic Epidemiology +17

<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype

Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp et al. · Brain · 2018 · 218 citations · Full text

<i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy

Johannes R. Lemke, Rik Hendrickx, Kirsten Geider et al. · Annals of Neurology · 2013 · 209 citations · Full text

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel et al. · The American Journal of Human Genetics · 2012 · 185 citations · Full text

Cause Floating-harbor Syndrome, Molecular Physiology, Signal Transduction +4