| Is there a link between mitochondrial reserve respiratory capacity and aging? C Desler, TL Hansen, JB Frederiksen, ML Marcker, KK Singh, ... Journal of aging research 2012, 2012 | 267 | 2012 |
| A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome M Drost, Y Tiersma, BA Thompson, JH Frederiksen, G Keijzers, D Glubb, ... Genetics in Medicine 21 (7), 1486-1496, 2019 | 51 | 2019 |
| Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre BJ Henriques, TG Lucas, JV Rodrigues, JH Frederiksen, MS Teixeira, ... PLoS One 9 (9), e107157, 2014 | 22 | 2014 |
| New pathogenic germline variants in very early onset and familial colorectal cancer patients M Djursby, MB Madsen, JH Frederiksen, LA Berchtold, C Therkildsen, ... Frontiers in Genetics 11, 566266, 2020 | 19 | 2020 |
| Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele P Bross, JB Frederiksen, AS Bie, J Hansen, J Palmfeldt, MN Nielsen, ... Journal of inherited metabolic disease 35, 787-796, 2012 | 17 | 2012 |
| Increased deoxythymidine triphosphate levels is a feature of relative cognitive decline C Desler, JH Frederiksen, M Angleys, S Maynard, G Keijzers, B Fagerlund, ... Mitochondrion 25, 34-37, 2015 | 11 | 2015 |
| Classification of MSH6 variants of uncertain significance using functional assays JH Frederiksen, SB Jensen, Z Tümer, TO Hansen International Journal of Molecular Sciences 22 (16), 8627, 2021 | 9 | 2021 |
| Human DNA polymerase delta double-mutant D316A;E318A interferes with DNA mismatch repair in vitro D Liu, JH Frederiksen, SE Liberti, A Lützen, G Keijzers, J Pena-Diaz, ... Nucleic Acids Research 45 (16), 9427-9440, 2017 | 7 | 2017 |
| Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study AM Jelsig, T van Overeem Hansen, LB Gede, N Qvist, LL Christensen, ... Clinical Genetics 104 (1), 81-89, 2023 | 6 | 2023 |
| Galectin-7 reprograms skin carcinogenesis by fostering innate immune evasive programs NA Pinto, MC Abba, L Laporte, JM Pérez Sáez, AG Blidner, NI Torres, ... Cell Death & Differentiation 30 (4), 906-921, 2023 | 2 | 2023 |
| A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families M Djursby, K Wadt, JH Frederiksen, MB Madsen, LA Berchtold, ... Hereditary Cancer in Clinical Practice 18, 1-6, 2020 | 2 | 2020 |
| The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification A Byrjalsen, U Stoltze, M Mehrjouy, JH Frederiksen, M Bak, U Birkedal, ... Molecular Genetics & Genomic Medicine 11 (10), e2232, 2023 | | 2023 |
| Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps AM Jelsig, K Rønlund, LB Gede, JH Frederiksen, JG Karstensen, ... Journal of human genetics 68 (10), 721-724, 2023 | | 2023 |
| DOMINANT NEGATIVE EFFECT OF A MUTATION IN THE GLUTARYL-CoA DE-HYDROGENASE GENE ASSOCIATED WITH AN APPARENTLY DOMINANTLY INHERITED FORM OF GLUTARIC ACIDURIA TYPE I P Bross, J Palmfeldt, JB Frederiksen, J Hansen, MN Nielsen, N Gregersen, ... JOURNAL OF INHERITED METABOLIC DISEASE 33, S175-S175, 2010 | | 2010 |
| Hansen, TvO Classification of MSH6 Variants of Uncertain Significance Using Functional Assays JH Frederiksen, SB Jensen, Z Tümer Int. J. Mol. Sci, 0 | | |
