Concepedia

Isabel Spier

IS

Statistics

Publications

38

Citations

2K

H-Index

26

Active since

2008

Affiliations

University of Bonn(Current)

University Hospital Bonn

Medical Genetics Center

National Center for Tumor Diseases

Istituti di Ricovero e Cura a Carattere Scientifico

Isabel Spier is an author at University of Bonn specializing in genetics, medical genetics, and life sciences.

ORCID

Publications per year

2008–2025

38

Publications

38

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 · 249 citations · Full text

, , +14

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 · 175 citations · Full text

, , +12

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 · 139 citations · Full text

, , +17

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels et al. · European Journal of Human Genetics · 2020 · 135 citations · Full text

, , +15

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 · 103 citations · Full text

, , +15

1–5 of 38