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Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
BMC Cancer. 2023 Apr 21;23(1):368. doi: 10.1186/s12885-023-10790-w.
BMC Cancer. 2023.
PMID: 37085799
Free PMC article.
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: ognedal e.
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.
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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. Among authors: ognedal e.
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.
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Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
Hovland HN, Mchaina EK, Høberg-Vetti H, Ariansen SL, Sjursen W, Van Ghelue M, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E.
Hovland HN, et al. Among authors: ognedal e.
Genes (Basel). 2023 Jan 19;14(2):262. doi: 10.3390/genes14020262.
Genes (Basel). 2023.
PMID: 36833189
Free PMC article.
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Prenatal BRCA1 epimutations contribute significantly to triple-negative breast cancer development.
Nikolaienko O, Eikesdal HP, Ognedal E, Gilje B, Lundgren S, Blix ES, Espelid H, Geisler J, Geisler S, Janssen EAM, Yndestad S, Minsaas L, Leirvaag B, Lillestøl R, Knappskog S, Lønning PE.
Nikolaienko O, et al. Among authors: ognedal e.
Genome Med. 2023 Dec 6;15(1):104. doi: 10.1186/s13073-023-01262-8.
Genome Med. 2023.
PMID: 38053165
Free PMC article.
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Assessment of tumor suppressor promoter methylation in healthy individuals.
Poduval DB, Ognedal E, Sichmanova Z, Valen E, Iversen GT, Minsaas L, Lønning PE, Knappskog S.
Poduval DB, et al. Among authors: ognedal e.
Clin Epigenetics. 2020 Aug 28;12(1):131. doi: 10.1186/s13148-020-00920-7.
Clin Epigenetics. 2020.
PMID: 32859265
Free PMC article.
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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S; InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel.
Spier I, et al. Among authors: ognedal e.
Genet Med. 2024 Feb;26(2):100992. doi: 10.1016/j.gim.2023.100992. Epub 2023 Oct 4.
Genet Med. 2024.
PMID: 37800450
Free article.
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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA, Walters R, Parsons MT, Dumenil T, Drost M, Tiersma Y, Lindor NM, Tavtigian SV, de Wind N, Spurdle AB; InSiGHT Variant Interpretation Committee.
Thompson BA, et al.
Front Genet. 2020 Jul 27;11:798. doi: 10.3389/fgene.2020.00798. eCollection 2020.
Front Genet. 2020.
PMID: 32849802
Free PMC article.
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