Annegret Buske

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

Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

Carsten Bergmann, Jennifer von Bothmer, Nadina Ortiz Brüchle et al. · Journal of the American Society of Nephrology · 2011 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1

David A. Stevenson, Patricia Birch, Jan M. Friedman et al. · American Journal of Medical Genetics · 1999 · 129 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +13

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

AL Schulz, Beate Albrecht, I. van der Bürgt et al. · Clinical Genetics · 2007 · 109 citations

Life Sciences, Genetics, Molecular Genetics +14