R. Adam

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

Stem cell functionality is microenvironmentally defined during tumour expansion and therapy response in colon cancer

Kristiaan Lenos, Daniël M. Miedema, Sophie C. Lodestijn et al. · Nature Cell Biology · 2018 · 165 citations · Full text

Tumor Biology, Tumour Expansion, Medicine +15

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

Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

Sukanya Horpaopan, Isabel Spier, Alexander M. Zink et al. · International Journal of Cancer · 2014 · 64 citations · Full text

Unrelated Patients, Engineering, Genome‐wide Cnv Analysis +19

Low-level <i>APC</i> mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

Isabel Spier, Dmitriy Drichel, Martin Kerick et al. · Journal of Medical Genetics · 2015 · 62 citations · Full text