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 · 306 citations · Full text

Functional Domain Upstream, Genome Instability, Functional Genomics +11

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 · 278 citations · Full text

Disease Etiology, Genetics, Pseudo-torch Syndrome +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 · 234 citations · Full text

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 · Full text

Segmental Neurofibromatosis, Somatic Mutation, Pathology +5

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 227 citations · Full text