Background and activities
Scientific, academic and artistic work
A selection of recent journal publications, artistic productions, books, including book and report excerpts. See all publications in the database
- (2022) BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories. Familial Cancer.
- (2021) Methylation signature of atypical meningiomas. Clinical Neuropathology. vol. 40 (4).
- (2021) The prognostic value of methylation signatures and NF2 mutations in atypical meningiomas. Cancers.
- (2021) Detecting copy number variation in next generation sequencing data from diagnostic gene panels. BMC Medical Genomics. vol. 14 (1).
- (2020) sMETASeq: combined profiling of microbiota and host small RNAs. iScience.
- (2020) Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer. PLOS ONE.
- (2019) Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype. Cancer Cell. vol. 35 (2).
- (2019) Small RNA expression from viruses, bacteria and human miRNAs in colon cancer tissue and its association with microsatellite instability and tumor location. BMC Cancer. vol. 19 (1).
- (2019) An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome. Genetics in Medicine. vol. 21 (12).
- (2019) Update on genetic predisposition to colorectal cancer and polyposis. Molecular Aspects of Medicine.
- (2019) Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome. Molecular Genetics & Genomic Medicine. vol. 7 (8).
- (2017) Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. Clinical Genetics. vol. 92 (4).
- (2017) Identification of metastasis-associated microRNAs in serum from rectal cancer patients. OncoTarget. vol. 8 (52).
- (2016) No association between non-bullous skin reactions from lamotrigine and heterozygosity of UGT1A4 genetic variants *2(P24T) or *3(L48V) in Norwegian patients. Seizure. vol. 45.
- (2016) Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Molecular Genetics & Genomic Medicine. vol. 4 (2).
- (2016) Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families. Cancer Medicine. vol. 5 (5).
- (2015) A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. Familial Cancer. vol. 14 (3).
- (2015) A novel POLE variant, identified by exome sequencing, causes colorectal- and extra-colonic cancers. Familial Cancer. vol. 14 (1).
- (2015) A Novel Deep Intronic Mutation Introducing a Cryptic Exon Causing Neurofibromatosis Type 1 in a Family with Highly Variable Phenotypes: A Case Study. Hereditary Genetics: Current Research. vol. 4 (3).
- (2014) The Norwegian PMS2 founder mutation c.989-1G>T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry. Hereditary Cancer in Clinical Practice. vol. 12 (1).