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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
- Ronja Adam, I. Spier, S. Aretz
- Biology, MedicineAmerican journal of human genetics
- 4 August 2016
Deep intronic APC mutations explain a substantial proportion of patients with familial or early‐onset adenomatous polyposis
- I. Spier, S. Horpaopan, S. Aretz
- Medicine, BiologyHuman mutation
- 1 July 2012
TLDR
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases
- I. Spier, D. Drichel, S. Aretz
- MedicineJournal of Medical Genetics
- 27 November 2015
TLDR
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas
- I. Spier, S. Holzapfel, S. Aretz
- MedicineInternational journal of cancer
- 15 July 2015
TLDR
Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis
- S. Horpaopan, I. Spier, S. Aretz
- Biology, MedicineInternational journal of cancer
- 15 March 2015
TLDR
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis
TLDR
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events
- S. Aretz, R. Tricarico, M. Genuardi
- BiologyEuropean Journal of Human Genetics
- 1 July 2014
TLDR
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes
- K. Kayser, F. Degenhardt, Verena Steinke-Lange
- BiologyInternational journal of cancer
- 3 October 2018
TLDR
Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits
- A. Okazaki, S. Horpaopan, Qingrun Zhang, M. Randesi, J. Ott
- Computer ScienceGenes
- 26 July 2021
TLDR
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)
- S. Horpaopan, J. Kirfel, S. Aretz
- Medicine, BiologyHereditary cancer in clinical practice
- 29 November 2017
TLDR
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