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Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database P Møller, T Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, ... Gut 66 (3), 464-472, 2017 | 544 | 2017 |
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database M Dominguez-Valentin, JR Sampson, TT Seppälä, SW Ten Broeke, ... Genetics in Medicine 22 (1), 15-25, 2020 | 502 | 2020 |
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing TS Alioto, I Buchhalter, S Derdak, B Hutter, MD Eldridge, E Hovig, ... Nature Communications 6, 2015 | 327 | 2015 |
Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen MP Menden, D Wang, MJ Mason, B Szalai, KC Bulusu, Y Guan, T Yu, ... Nature communications 10 (1), 2674, 2019 | 275 | 2019 |
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database P Møller, T Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, ... Gut 66 (9), 1657-1664, 2017 | 149 | 2017 |
Variants of the genes encoding AQP4 and Kir4. 1 are associated with subgroups of patients with temporal lobe epilepsy K Heuser, EA Nagelhus, E Taubøll, U Indahl, PR Berg, S Lien, S Nakken, ... Epilepsy Research 88 (1), 55-64, 2010 | 120 | 2010 |
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report T Seppälä, K Pylvänäinen, DG Evans, H Järvinen, L Renkonen-Sinisalo, ... Hereditary cancer in clinical practice 15, 1-10, 2017 | 71 | 2017 |
The disruptive positions in human G-quadruplex motifs are less polymorphic and more conserved than their neutral counterparts S Nakken, T Rognes, E Hovig Nucleic Acids Research, gkp590, 2009 | 70 | 2009 |
Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in human DNA repair genes S Nakken, I Alseth, T Rognes Neuroscience 145 (4), 1273-1279, 2007 | 59 | 2007 |
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report TT Seppälä, A Ahadova, M Dominguez-Valentin, F Macrae, DG Evans, ... Hereditary cancer in clinical practice 17, 1-8, 2019 | 57 | 2019 |
Patterns of genomic evolution in advanced melanoma E Birkeland, S Zhang, D Poduval, J Geisler, S Nakken, D Vodak, ... Nature communications 9 (1), 2665, 2018 | 57 | 2018 |
Sequencing of FTO and ALKBH5 in men undergoing infertility work-up identifies an infertility-associated variant and two missense mutations M Landfors, S Nakken, M Fusser, JA Dahl, A Klungland, P Fedorcsak Fertility and Sterility 105 (5), 1170-1179. e5, 2016 | 51 | 2016 |
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses ØL Holla, S Nakken, M Mattingsdal, T Ranheim, KE Berge, JC Defesche, ... Molecular Genetics and Metabolism 96 (4), 245-252, 2009 | 49 | 2009 |
BRAF V600E mutation in early-stage multiple myeloma: good response to broad acting drugs and no relation to prognosis EH Rustad, HY Dai, H Hov, E Coward, V Beisvag, O Myklebost, E Hovig, ... Blood Cancer Journal 5 (3), e299, 2015 | 44 | 2015 |
Is the brain water channel aquaporin‐4 a pathogenetic factor in idiopathic intracranial hypertension? Results from a combined clinical and genetic study in a Norwegian cohort E Kerty, K Heuser, UG Indahl, PR Berg, S Nakken, S Lien, SW Omholt, ... Acta ophthalmologica 91 (1), 88-91, 2013 | 43 | 2013 |
ABCB4 sequence variations in young adults with cholesterol gallstone disease KE Nakken, KJ Labori, OK Rødningen, S Nakken, KE Berge, K Eiklid, ... Liver International 29 (5), 743-747, 2009 | 41 | 2009 |
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report M Dominguez-Valentin, EJ Crosbie, C Engel, S Aretz, F Macrae, I Winship, ... Genetics in Medicine 23 (4), 705-712, 2021 | 35 | 2021 |
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report M Dominguez-Valentin, TT Seppälä, JR Sampson, F Macrae, I Winship, ... Hereditary cancer in clinical practice 17, 1-6, 2019 | 35 | 2019 |
Personal Cancer Genome Reporter: variant interpretation report for precision oncology S Nakken, G Fournous, D Vodàk, LB Aasheim, O Myklebost, E Hovig Bioinformatics, 2017 | 34 | 2017 |