Luitgard Graul‐Neumann

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Tomasz Żemojtel, Sebastian Köhler, Luisa Mackenroth et al. · Science Translational Medicine · 2014 · 259 citations

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jijun Wan, Michael Yourshaw, Hafsa Mamsa et al. · Nature Genetics · 2012 · 257 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +6

Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa et al. · Nature Genetics · 2015 · 170 citations · Full text

Pain Syndrome, Signal Transduction, Health Sciences +8

Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Miriam Schmidts, Heleen H. Arts, Ernie M.H.F. Bongers et al. · Journal of Medical Genetics · 2013 · 139 citations · Full text

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

Sabine Rudnik‐Schöneborn, Silke Vogelgesang, Sven Armbrust et al. · Muscle & Nerve · 2010 · 109 citations

Peripheral Nerve Injury, Neurological Disorder, Sural Nerve Biopsy +26