Katharina Wimmer

Comprehensive Analysis of Hypermutation in Human Cancer

Brittany Campbell, Nicholas Light, David Fabrizio et al. · Cell · 2017 · 772 citations · Full text

Somatic Variant, Cancer Genomics, Comprehensive Analysis +5

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 687 citations · Full text

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Scott R. Plotkin, Ludwine Messiaen, Eric Legius et al. · Genetics in Medicine · 2022 · 247 citations · Full text

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

Hans F. A. Vasen, Zeinab Ghorbanoghli, Franck Bourdeaut et al. · Journal of Medical Genetics · 2014 · 199 citations · Full text

High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene

Hildegard Kehrer‐Sawatzki, Lan Kluwe, Catharina Sandig et al. · The American Journal of Human Genetics · 2004 · 139 citations · Full text

Jjaz1 Gene, Mendelian Disorder, Genetic Disorder +8