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BRCA Testing by Single-Molecule Molecular Inversion Probes.
Neveling K, Mensenkamp AR, Derks R, Kwint M, Ouchene H, Steehouwer M, van Lier B, Bosgoed E, Rikken A, Tychon M, Zafeiropoulou D, Castelein S, Hehir-Kwa J, Tjwan Thung D, Hofste T, Lelieveld SH, Bertens SM, Adan IB, Eijkelenboom A, Tops BB, Yntema H, Stokowy T, Knappskog PM, Høberg-Vetti H, Steen VM, Boyle E, Martin B, Ligtenberg MJ, Shendure J, Nelen MR, Hoischen A. Neveling K, et al. Among authors: knappskog pm. Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14. Clin Chem. 2017. PMID: 27974384
BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.
Høberg-Vetti H, Bjorvatn C, Fiane BE, Aas T, Woie K, Espelid H, Rusken T, Eikesdal HP, Listøl W, Haavind MT, Knappskog PM, Haukanes BI, Steen VM, Hoogerbrugge N. Høberg-Vetti H, et al. Among authors: knappskog pm. Eur J Hum Genet. 2016 Jun;24(6):881-8. doi: 10.1038/ejhg.2015.196. Epub 2015 Sep 9. Eur J Hum Genet. 2016. PMID: 26350514 Free PMC article.
Screening for viral nucleic acids in vestibular schwannoma.
Håvik AL, Bruland O, Aarhus M, Kalland KH, Stokowy T, Lund-Johansen M, Knappskog PM. Håvik AL, et al. Among authors: knappskog pm. J Neurovirol. 2018 Dec;24(6):730-737. doi: 10.1007/s13365-018-0669-6. Epub 2018 Aug 30. J Neurovirol. 2018. PMID: 30168016
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
Høberg-Vetti H, Ognedal E, Buisson A, Vamre TBA, Ariansen S, Hoover JM, Eide GE, Houge G, Fiskerstrand T, Haukanes BI, Bjorvatn C, Knappskog PM. Høberg-Vetti H, et al. Among authors: knappskog pm. Eur J Hum Genet. 2020 Aug;28(8):1078-1086. doi: 10.1038/s41431-020-0612-1. Epub 2020 Mar 20. Eur J Hum Genet. 2020. PMID: 32203205 Free PMC article.
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
Holtan JP, Aukrust I, Jansson RW, Berland S, Bruland O, Gjerde BL, Stokowy T, Bojovic O, Forsaa V, Austeng D, Rødahl E, Bredrup C, Knappskog PM, Bragadóttir R. Holtan JP, et al. Among authors: knappskog pm. Acta Ophthalmol. 2021 Aug;99(5):e733-e746. doi: 10.1111/aos.14679. Epub 2020 Nov 30. Acta Ophthalmol. 2021. PMID: 33258285 Free article.
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Hovland HN, Al-Adhami R, Ariansen SL, Van Ghelue M, Sjursen W, Lima S, Bolstad M, Berger AH, Høberg-Vetti H, Knappskog P, Haukanes BI, Aukrust I, Ognedal E. Hovland HN, et al. Fam Cancer. 2022 Oct;21(4):389-398. doi: 10.1007/s10689-021-00286-6. Epub 2022 Jan 4. Fam Cancer. 2022. PMID: 34981296 Free PMC article.
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
Bassi N, Hovland HN, Rasheed K, Jarhelle E, Pedersen N, Mchaina EK, Bakkan SME, Iversen N, Høberg-Vetti H, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E, Van Ghelue M. Bassi N, et al. Among authors: knappskog pm. BMC Cancer. 2023 Apr 21;23(1):368. doi: 10.1186/s12885-023-10790-w. BMC Cancer. 2023. PMID: 37085799 Free PMC article.
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM. Fiskerstrand T, et al. Among authors: knappskog pm. Am J Hum Genet. 2010 Sep 10;87(3):410-7. doi: 10.1016/j.ajhg.2010.08.002. Am J Hum Genet. 2010. PMID: 20797687 Free PMC article.
159 results