Isabel Spier

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

R. Adam, Isabel Spier, Bixiao Zhao et al. · The American Journal of Human Genetics · 2016 · 242 citations · Full text

Somatic Variant, Recessive Subtype, Medicine +10

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

Judith E. Grolleman, Richarda M. de Voer, Fadwa A. Elsayed et al. · Cancer Cell · 2019 · 166 citations · Full text

Tumor Biology, Multi-tumor Phenotype, Somatic Variant +11

Frequency and phenotypic spectrum of germline mutations in <scp><i>POLE</i></scp> and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

Isabel Spier, Stefanie Holzapfel, Janine Altmüller et al. · International Journal of Cancer · 2014 · 137 citations · Full text

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Gabriela Jones, Pia Østergaard, Anthony T. Moore et al. · European Journal of Human Genetics · 2013 · 90 citations · Full text

Genetic Disorder, Kif11 Mutations, Pathology +6