Frederiksen JH - Search Results

1

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH, Jensen SB, Tümer Z, Hansen TVO. Frederiksen JH, et al. Int J Mol Sci. 2021 Aug 11;22(16):8627. doi: 10.3390/ijms22168627. Int J Mol Sci. 2021. PMID: 34445333 Free PMC article. Review.

2

A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.

Drost M, Tiersma Y, Thompson BA, Frederiksen JH, Keijzers G, Glubb D, Kathe S, Osinga J, Westers H, Pappas L, Boucher KM, Molenkamp S, Zonneveld JB, van Asperen CJ, Goldgar DE, Wallace SS, Sijmons RH, Spurdle AB, Rasmussen LJ, Greenblatt MS, de Wind N, Tavtigian SV. Drost M, et al. Among authors: frederiksen jh. Genet Med. 2019 Jul;21(7):1486-1496. doi: 10.1038/s41436-018-0372-2. Epub 2018 Dec 3. Genet Med. 2019. PMID: 30504929 Free PMC article.

3

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families.

Djursby M, Wadt K, Frederiksen JH, Madsen MB, Berchtold LA, Hasselby JP, Willemoe GL, Hansen TVO, Gerdes AM. Djursby M, et al. Among authors: frederiksen jh. Hered Cancer Clin Pract. 2020 Apr 7;18:8. doi: 10.1186/s13053-020-00140-3. eCollection 2020. Hered Cancer Clin Pract. 2020. PMID: 32292534 Free PMC article.

4

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Djursby M, Madsen MB, Frederiksen JH, Berchtold LA, Therkildsen C, Willemoe GL, Hasselby JP, Wikman F, Okkels H, Skytte AB, Nilbert M, Wadt K, Gerdes AM, van Overeem Hansen T. Djursby M, et al. Among authors: frederiksen jh. Front Genet. 2020 Sep 24;11:566266. doi: 10.3389/fgene.2020.566266. eCollection 2020. Front Genet. 2020. PMID: 33193653 Free PMC article.

5

The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification.

Byrjalsen A, Stoltze U, Mehrjouy M, Frederiksen JH, Bak M, Birkedal U, Hasle H, Gerdes AM, Schmiegelow K, Wadt K, Hansen TVO. Byrjalsen A, et al. Among authors: frederiksen jh. Mol Genet Genomic Med. 2023 Oct;11(10):e2232. doi: 10.1002/mgg3.2232. Epub 2023 Jul 10. Mol Genet Genomic Med. 2023. PMID: 37430472 Free PMC article.

6

Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.

Jelsig AM, van Overeem Hansen T, Gede LB, Qvist N, Christensen LL, Lautrup CK, Frederiksen JH, Sunde L, Ousager LB, Ljungmann K, Bertelsen B, Karstensen JG. Jelsig AM, et al. Among authors: frederiksen jh. Clin Genet. 2023 Jul;104(1):81-89. doi: 10.1111/cge.14337. Epub 2023 Apr 5. Clin Genet. 2023. PMID: 37017260

7

Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps.

Jelsig AM, Rønlund K, Gede LB, Frederiksen JH, Karstensen JG, Birkedal U, van Overeem Hansen T. Jelsig AM, et al. Among authors: frederiksen jh. J Hum Genet. 2023 Oct;68(10):721-724. doi: 10.1038/s10038-023-01174-w. Epub 2023 Jun 19. J Hum Genet. 2023. PMID: 37336910

8

Human DNA polymerase delta double-mutant D316A;E318A interferes with DNA mismatch repair in vitro.

Liu D, Frederiksen JH, Liberti SE, Lützen A, Keijzers G, Pena-Diaz J, Rasmussen LJ. Liu D, et al. Among authors: frederiksen jh. Nucleic Acids Res. 2017 Sep 19;45(16):9427-9440. doi: 10.1093/nar/gkx611. Nucleic Acids Res. 2017. PMID: 28934474 Free PMC article.

9

Increased deoxythymidine triphosphate levels is a feature of relative cognitive decline.

Desler C, Frederiksen JH, Angleys M, Maynard S, Keijzers G, Fagerlund B, Mortensen EL, Osler M, Lauritzen M, Bohr VA, Rasmussen LJ. Desler C, et al. Among authors: frederiksen jh. Mitochondrion. 2015 Nov;25:34-7. doi: 10.1016/j.mito.2015.09.002. Epub 2015 Sep 25. Mitochondrion. 2015. PMID: 26408413 Free PMC article.

10

Galectin-7 reprograms skin carcinogenesis by fostering innate immune evasive programs.

Pinto NA, Abba MC, Laporte L, Pérez Sáez JM, Blidner AG, Torres NI, Morales RM, Gatto SG, Bach CA, Veigas F, García Rivello HJ, Song P, Frederiksen JH, Rasmussen LJ, Poirier F, Croci DO, Sundblad V, Rabinovich GA, Cerliani JP. Pinto NA, et al. Among authors: frederiksen jh. Cell Death Differ. 2023 Apr;30(4):906-921. doi: 10.1038/s41418-022-01108-7. Epub 2023 Jan 24. Cell Death Differ. 2023. PMID: 36693903 Free PMC article.

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