Steffi Patzer

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 108 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +8

<i>De novo GABRG2</i>mutations associated with epileptic encephalopathies

Dingding Shen, Ciria C. Hernández, Wangzhen Shen et al. · Brain · 2016 · 105 citations · Full text

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 42 citations · Full text

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

Jan Henje Döring, Afshin Saffari, Thomas Bast et al. · Biomedicines · 2020 · 39 citations · Full text