Stephanie Demuth

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2018 · 186 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

Alessia Indrieri, Valeria Tiranti, Manuela Morleo et al. · The American Journal of Human Genetics · 2012 · 172 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A mutation screen in patients with Kabuki syndrome

Yun Li, Nina Bögershausen, Yasemin Alanay et al. · Human Genetics · 2011 · 131 citations

Life Sciences, Genetics, Molecular Genetics +11

Adult-onset cerebellar ataxia due to mutations in<i>CABC1/ADCK3</i>

Rita Horváth, Birgit Czermin, Sweena Gulati et al. · Journal of Neurology Neurosurgery & Psychiatry · 2011 · 109 citations

Life Sciences, Genetics, Neurology +17

Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

Peter N. Robinson, Luitgard M. Neumann, Stephanie Demuth et al. · American Journal of Medical Genetics Part A · 2005 · 87 citations

Medicine, Craniofacial Biology, Maxillofacial Pathology +13