Sigrid Tinschert

Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain

Raimund Fahsold, Sven Hoffmeyer, Claudia Mischung et al. · The American Journal of Human Genetics · 2000 · 308 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Marije Meuwissen, Rachel Schot, Sofija Buta et al. · The Journal of Experimental Medicine · 2016 · 290 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Wnt Signaling and Dupuytren's Disease

Guido H. Dolmans, Paul M. N. Werker, Hans Christian Hennies et al. · New England Journal of Medicine · 2011 · 239 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

Sigrid Tinschert, Ilka Naumann, Elisabeth Stegmann et al. · European Journal of Human Genetics · 2000 · 231 citations

Medicine, Genetics, Molecular Genetics +10

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 · 229 citations · Full text

Medicine, Genetics, Molecular Genetics +17