Eva-Maria Rump

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2

Ulrich Pannicke, Manfred Hönig, Isabell Hess et al. · Nature Genetics · 2008 · 243 citations

Life Sciences, Genetics, Molecular Genetics +6

Deficiency of Innate and Acquired Immunity Caused by an <i>IKBKB</i> Mutation

Ulrich Pannicke, Bernd Baumann, Sebastian Fuchs et al. · New England Journal of Medicine · 2013 · 185 citations · Full text

Life Sciences, Genetics, Immunology +17

Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

Holger Cario, Desirée E.C. Smith, Henk J. Blom et al. · The American Journal of Human Genetics · 2011 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The most frequent<i>DCLRE1C</i>(<i>ARTEMIS</i>) mutations are based on homologous recombination events

Ulrich Pannicke, Manfred Hönig, Ilka Schulze et al. · Human Mutation · 2009 · 58 citations

Life Sciences, Genetics, Molecular Genetics +15