Publications published since 2015 from OUS - Department of Medical Genetics

1111 publications found (only first 1000 shown)

Publications 2025

1. Akkouh IA, Osete JR, Szabo A, Andreassen OA, Djurovic S (2025)
   Neurobiological Perturbations in Bipolar Disorder Compared With Schizophrenia: Evidence From Cell Cultures and Brain Organoids
   Biol Psychiatry, 98 (4), 322-332
   DOI 10.1016/j.biopsych.2025.02.012, PubMed 39983953
2. Andersen EL, Solberg MG, Enger S, Onarheim S, Olufsen M, Berge T, Åkra S, Kleveland MK, Christophersen IE, Ulimoen SR, Seljeflot I, Tveit A (2025)
   Circulating Biomarkers and Recurrence of Persistent Atrial Fibrillation After Electrical Cardioversion
   Biomark Insights, 20, 11772719251361306
   DOI 10.1177/11772719251361306, PubMed 40949791
3. Anjum M, Ariansen I, Myrstad M, Kjerpeseth LJ, Hjellvik V, Skovlund E, Christophersen IE, Tveit A, Berge T (2025)
   Timing of stroke risk reassessment in atrial fibrillation patients with a CHA2DS2-VA score of 0 or 1: the Norwegian AFNOR study
   Europace, 27 (10)
   DOI 10.1093/europace/euaf145, PubMed 40704643
4. Bai X, Rayner S, Skuggen LE, Engseth KK, Bjørnstad PM, Dalland M, Gilfillan GD, Bjørås M, Matussek A (2025)
   A preliminary evaluation of a fast, low-cost, and high-throughput nucleic acid extraction method for bacterial microbiota profiling in low-microbial biomass samples
   Sci Rep, 15 (1), 2005
   DOI 10.1038/s41598-024-84682-9, PubMed 39814772
5. Birkenæs V, Parekh P, Hegemann L, Bakken NR, Frei E, Jaholkowski P, Smeland OB, Susser E, Rodriguez KM, Tesfaye M, Andreassen OA, Havdahl A, Sønderby IE (2025)
   Youth psychotic experiences: psychometric evaluation and diagnostic associations of the CAPE-16 in adolescents from the Norwegian Mother, Mather and Child Cohort
   J Child Psychol Psychiatry (in press)
   DOI 10.1111/jcpp.70007, PubMed 40759589
6. Bogsrud MP, Stava TT, Berge KE, Strøm TB, Retterstøl K, Holven KB (2025)
   LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening
   Eur Heart J (in press)
   DOI 10.1093/eurheartj/ehaf815, PubMed 41127896
7. Bouhatous YM, Bredrup C, Maurer A, Mirakovska L, Foster A, Kosaki K, Jost C, Demoulin JB, Luu M, Vabres P, Kurtz JE, Schaefer E, Guimier A, Cormier-Daire V, Lim D, Thompson S, Olson L, Kwon HR, Aguirre-Rodriguez C, Hernandez-Dorronsoro U, Martinez-Soroa I, Iznardo H, Mascaró JM, Baselga E, Kalantari S et al. (2025)
   'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors
   J Med Genet, 62 (10), 656-663
   DOI 10.1136/jmg-2024-110600, PubMed 40707250
8. Bradbrook SM, Graham G, Carter MT, Kibaek M, Fagerberg C, Larsen MJ, Dawson K, Meuter C, Pepler A, Besnard T, Vincent M, Isidor B, Bezieau S, Cogne B, Bjørgo K, Amundsen SS, Courtin T, Emrick L, Rosenfeld JA, Weisz-Hubshman M, Undiagnosed Diseases Network, Mak BC, Martinez-Agosto J, Heulin M, Morin G et al. (2025)
   De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder
   Am J Med Genet A, e64242 (in press)
   DOI 10.1002/ajmg.a.64242, PubMed 40936200
9. Böker T, Kirkhus E, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R (2025)
   The natural history of protrusio acetabuli in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up CT study
   Orphanet J Rare Dis, 20 (1), 118
   DOI 10.1186/s13023-025-03628-0, PubMed 40075421
10. Campos-Segura AV, Alvarez K, Murillo Carrasco AG, Rossi BM, Bohorquez M, Spirandelli F, Benavides C, Balto A, Della Valle A, Bruno LI, Lopez-Kostner F, Cruz-Correa M, Del Monte JS, Rugeles J, Ramirez JM, Nascimento I, Forones NM, Cock-Rada AM, Reyes-Silva C, Avila S, Apolinario L, Rossi NT, Martin C, Sulcahuaman Y, Vaccaro CA et al. (2025)
    Characterization of Screening Strategies for Lynch Syndrome in Latin America
    Clin Gastroenterol Hepatol, 23 (9), 1642-1654
    DOI 10.1016/j.cgh.2024.12.026, PubMed 40010418
11. Choi SH, Jurgens SJ, Xiao L, Hill MC, Haggerty CM, Sveinbjörnsson G, Morrill VN, Marston NA, Weng LC, Pirruccello JP, Arnar DO, Gudbjartsson DF, Mantineo H, von Falkenhausen AS, Natale A, Tveit A, Geelhoed B, Roselli C, Van Wagoner DR, Darbar D, Haase D, Soliman EZ, Davogustto GE, Jun G, Calkins H et al. (2025)
    Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
    Nat Genet, 57 (3), 548-562
    DOI 10.1038/s41588-025-02074-9, PubMed 40050430
12. Christophersen IE, De Waele J, Km A, S H, Backe PH, Kulseth MA, Mero IL, Bosmans F (2025)
    A new loss-of-function variant in SCN1A is associated with early-onset complex febrile seizures
    Seizure, 131, 378-381
    DOI 10.1016/j.seizure.2025.08.010, PubMed 40834683
13. de Courtade SMB, Eikenes M, Sheng Y, Nyman TA, Bliksrud YT, Scheffler K, Eide L (2025)
    Identification of determinants for variability in mitochondrial biochemical complex activities
    Biochim Biophys Acta Bioenerg, 1866 (2), 149553
    DOI 10.1016/j.bbabio.2025.149553, PubMed 40068806
14. Dybedal I, Iversen N, Jacobsen AF, Bjørge L, Chaireti R, Henriksson CE, Schultz NH, Hvas AM, Sandset PM, Weedon-Fekjær H, Bremme K, Abildgaard U (2025)
    Hereditary antithrombin deficiency and venous thrombosis in pregnancy-results of a retrospective multicenter study
    J Thromb Haemost, 23 (9), 2807-2818
    DOI 10.1016/j.jtha.2025.03.001, PubMed 40086756
15. Fominykh V, Shadrin AA, Jaholkowski P, Fuhrer J, Parker N, Wiström ED, Frei O, Smeland OB, Sanner H, Djurovic S, Andreassen OA (2025)
    Mapping the genetic landscape of immune-mediated disorders: potential implications for classification and therapeutic strategies
    Front Immunol, 16, 1543781
    DOI 10.3389/fimmu.2025.1543781, PubMed 40406108
16. Glenna S, Birkeland EE, Orr RJ, Gilfillan GD, Dalland M, Økstad OA, Voie ØA, Rounge TB (2025)
    Skin bacterial community dynamics of hands and forearms before and after military field exercise
    Microbiol Spectr, 13 (5), e0295324 (in press)
    DOI 10.1128/spectrum.02953-24, PubMed 40231684
17. Gorjizadeh N, Gorjizadeh N, Bitarafan F, Mohammadi-Sarband M, Garshasbi M (2025)
    Identification of a Novel Homozygous C1QB Mutation in an Iranian Girl: Expanding the Clinical Spectrum of C1q Deficiency
    Int J Immunogenet, e12717 (in press)
    DOI 10.1111/iji.12717, PubMed 40506420
18. Grimholt U, Sindre H, Sundaram AYM (2025)
    ISGylation and E3 ubiquitin ligases: an Atlantic salmon genetic perspective
    Front Immunol, 16, 1554680
    DOI 10.3389/fimmu.2025.1554680, PubMed 40630959
19. Hellum M, Sletten M, Le MS, Stavseth V, Glosli H, Backe PH, Iversen N, Henriksson CE (2025)
    Characterization of a novel factor X variant, p.F139L, associated with bleedings in heterozygous and compound heterozygous form
    Thromb Res, 253, 109412
    DOI 10.1016/j.thromres.2025.109412, PubMed 40763424
20. Hendricks LAJ, Verbeek KCJ, Schuurs-Hoeijmakers JHM, de Jong MM, Links TP, Brems H, Aerden M, Brunet J, Lleuger-Pujol R, Hüneburg R, Aretz S, Colas C, Villy MC, Woodward ER, Evans DG, Bosch DGM, Donze SH, Foretová L, Blatnik A, Leter EM, Tischkowitz M, Jahn A, de Putter R, Dupont J, Briskemyr S et al. (2025)
    The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)
    Genet Med, 27 (10), 101467
    DOI 10.1016/j.gim.2025.101467, PubMed 40433764
21. Hendricks LAJ, Verbeek KCJ, Schuurs-Hoeijmakers JHM, de Putter R, Brems H, Van Daele SH, Anastasiadou VC, Foretová L, Benusiglio PR, Gerasimenko A, Colas C, Villy MC, Houdayer C, Branchaud M, Hüneburg R, Aretz S, Jahn A, Steinke-Lange V, Innella G, Turchetti D, Barili V, Genuardi M, Panfili A, Baldassarri M, Irmejs A et al. (2025)
    Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study
    BJC Rep, 3 (1), 42
    DOI 10.1038/s44276-025-00157-y, PubMed 40468016
22. Holt MF, Michelsen AE, Flø A, Khan Y, Bjørnø VK, Skjelland M, Bjerkeli V, Paus B, Kvitting JP, Halvorsen B, Wien TN, Raki M, Gullestad L, Aukrust P, Broch K, Ueland T, Gude E (2025)
    Hepatocyte Growth Factor: A Marker of Cardiac Function, Mortality, and Disease Subtype in Cardiac Amyloidosis
    JACC Adv, 4 (6 Pt 1), 101828 (in press)
    DOI 10.1016/j.jacadv.2025.101828, PubMed 40570404
23. Hoppe R, Winter S, Lo WY, Michailidou K, Bolla MK, Keeman R, Wang Q, Dennis J, Lush M, Kalari KR, Goetz MP, Wang L, Cairns J, Weinshilboum R, Shepherd L, Chen BE, Häberle L, Ruebner M, Beckmann MW, He W, Larson NL, Armasu SM, Schroth W, Chowbay B, Khor CC et al. (2025)
    Lessons learned from a candidate gene study investigating aromatase inhibitor treatment outcome in breast cancer
    NPJ Breast Cancer, 11 (1), 18
    DOI 10.1038/s41523-025-00733-y, PubMed 39971965
24. Hyldebrandt HK, Stormorken AT, Vitelli V, Geirdal AØ, Grindedal EM (2025)
    Experiences with risk-reducing mastectomy in Norwegian BRCA1/2 carriers without prior breast cancer
    Fam Cancer, 24 (3), 60
    DOI 10.1007/s10689-025-00484-6, PubMed 40728683
25. Höffler KD, Katrinli S, Halvorsen MW, Stavrum AK, O'Connell KS, Shadrin A, Djurovic S, Andreassen OA, Crowley JJ, Haavik J, Hagen K, Kvale G, Ressler K, Hansen B, Soares JC, Fries GR, Smith AK, Le Hellard S (2025)
    Optimizing genetic ancestry adjustment in DNA methylation studies: a comparative analysis of approaches
    Epigenetics Chromatin, 18 (1), 69
    DOI 10.1186/s13072-025-00627-0, PubMed 41088295
26. Icick R, Shadrin A, Holen B, Karadag N, Parker N, O'Connell KS, Frei O, Bahrami S, Høegh MC, Lagerberg TV, Cheng W, Seibert TM, Djurovic S, Dale AM, Zhou H, Edenberg HJ, Gelernter J, Smeland OB, Hindley G, Andreassen OA (2025)
    Identification of risk variants and cross-disorder pleiotropy through multi-ancestry genome-wide analysis of alcohol use disorder
    Nat Ment Health, 3 (2), 253-265
    DOI 10.1038/s44220-024-00353-8, PubMed 40322774
27. Jakobsen MK, Traynor S, Nielsen AY, Dahl C, Staehr M, Jakobsen ST, Madsen MS, Siersbaek R, Terp MG, Jensen JB, Pedersen CB, Shrestha A, Brewer JR, Duijf PHG, Gammelgaard OL, Ditzel HJ, Kirkin AF, Guldberg P, Gjerstorff MF (2025)
    Stochastic demethylation and redundant epigenetic suppressive mechanisms generate highly heterogeneous responses to pharmacological DNA methyltransferase inhibition
    J Exp Clin Cancer Res, 44 (1), 21
    DOI 10.1186/s13046-025-03294-x, PubMed 39844304
28. Jones MJ, Konwar C, Asiimwe R, Dinh L, Razzaghian HR, de Goede O, MacIsaac JL, Morin AM, Kolsun KP, Gervin K, Lyle R, Ng RT, Koestler DC, Felix JF, Lavoie PM, Robinson WP, Mostafavi S, Kobor MS (2025)
    DNA methylation differences between cord and adult white blood cells reflect postnatal immune cell maturation
    Commun Biol, 8 (1), 237
    DOI 10.1038/s42003-025-07661-4, PubMed 39953282
29. Kalinichenko A, Huemer J, Humer T, Haimel M, Svaton M, Socquet-Juglard N, Casoni GP, Prakash C, von der Linde M, Pazmandi J, van de Wetering C, Nunez-Fontarnau J, Kamnev A, Giuliani S, Jaeger MG, Hahn E, Dobner S, Rukavina A, Sylvander E, Seigner J, Rashkova C, Hoeger B, Traxlmayr MW, Lehner M, Bryceson YT et al. (2025)
    Protein palmitoylation and sphingolipid metabolism control regulated exocytosis in cytotoxic lymphocytes
    Sci Immunol, 10 (112), eado3825
    DOI 10.1126/sciimmunol.ado3825, PubMed 41105755
30. Kang M, Gulati GS, Brown EL, Qi Z, Avagyan S, Armenteros JJA, Gleyzer R, Zhang W, Steen CB, D'Silva JP, Schwab J, Clarke MF, Chaudhuri AA, Newman AM (2025)
    Improved reconstruction of single-cell developmental potential with CytoTRACE 2
    Nat Methods (in press)
    DOI 10.1038/s41592-025-02857-2, PubMed 41145665
31. Kaustio M, Szymanska M, Li W, Braathen R, Campbell TM, Haugen FL, Dahal-Koirala S, Silventoinen K, Nurmi K, Dinius M, Nowlan K, Hetemäki I, Chen P, Mamia K, Seppänen MRJ, Grönholm J, Kekäläinen E, Haapaniemi EM, Aalto K, Martelius T, Bryceson Y, Eklund KK, Saarela J (2025)
    Heterozygous loss of MAP4K1 causes immune dysregulation by amplifying T-cell responses
    J Allergy Clin Immunol, 156 (4), 1024-1037
    DOI 10.1016/j.jaci.2025.07.010, PubMed 40716650
32. Kazakou NL, Bestard-Cuche N, Wagstaff LJ, Horan K, Seeker L, Bøstrand S, Fetit R, Smith RS, Pohl FB, Neumann B, Keeler P, Franklin RJM, Williams A (2025)
    Metformin alters mitochondria-related metabolism and enhances human oligodendrocyte function
    Nat Commun, 16 (1), 8126
    DOI 10.1038/s41467-025-63279-4, PubMed 40885740
33. Koch E, Shadrin AA, Parker N, Lock SK, Smith RL, Frei O, Dale AM, Djurovic S, Molden E, O Connell KS, Andreassen OA (2025)
    Polygenic overlap with granulocyte counts identifies novel loci for clozapine metabolism and clozapine-induced agranulocytosis
    Neuropsychopharmacology, 50 (6), 947-955
    DOI 10.1038/s41386-025-02054-x, PubMed 39827279
34. Koch E, Smart S, Einarsson G, Kämpe A, Jonsson L, Alver M, Iveson M, Göteson A, Pardiñas AF, Sønderby IE, O'Connell KS, Li Q, Lu Y, Stefánsson H, Stefánsson K, Whalley H, Landén M, O'Donovan MC, Smerud K, Dawson GR, Werge T, Buil A, Reif A, Milani L, Molden E et al. (2025)
    Recommendations for defining treatment outcomes in major psychiatric disorders using real-world data
    Lancet Psychiatry, 12 (6), 457-468
    DOI 10.1016/S2215-0366(25)00061-6, PubMed 40222385
35. Kaarbø M, Yang M, Meyer-Myklestad MH, Sundaram AYM, de Sousa MML, Sharma A, Medhus AW, Dyrhol-Riise AM, Kvale D, Hov JR, Aukrust P, Bjørås M, Reikvam DH (2025)
    Transcriptomic and proteomic profiling reveal immune and metabolic dysregulation in the colonic mucosa of people living with HIV with incomplete immune recovery
    Front Immunol, 16, 1635523
    DOI 10.3389/fimmu.2025.1635523, PubMed 41041301
36. László MJ, Vigh JP, Kocsis AE, Porkoláb G, Hoyk Z, Polgár T, Walter FR, Szabó A, Djurovic S, Merkely B, Alpár A, Frecska E, Nagy Z, Deli MA, Nardai S (2025)
    N,N-dimethyltryptamine mitigates experimental stroke by stabilizing the blood-brain barrier and reducing neuroinflammation
    Sci Adv, 11 (33), eadx5958
    DOI 10.1126/sciadv.adx5958, PubMed 40802766
37. Lautrup S, Zhang SQ, Funayama S, Lirussi L, Visnovska T, Cheung HH, Niere M, Tian Y, Nilsen HL, Selbæk G, Saarela J, Maezawa Y, Yokote K, Nilsson P, Chan WY, Kato H, Ziegler M, Bohr VA, Fang EF (2025)
    Decreased mitochondrial NAD+ in WRN deficient cells links to dysfunctional proliferation
    Aging (Albany NY), 17 (4), 937-959
    DOI 10.18632/aging.206236, PubMed 40179319
38. Lavrichenko K, Engdal ES, Marvig RL, Jemt A, Vignes JM, Almusa H, Saether KB, Briem E, Caceres E, Elvarsdóttir EM, Gíslason MH, Haanpää MK, Henmyr V, Hotakainen R, Kaasinen E, Kanninga R, Khan S, Lie-Nielsen MG, Madsen MB, Mähler N, Maqbool K, Neethiraj R, Nyrén K, Paavola M, Pruisscher P et al. (2025)
    Recommendations for bioinformatics in clinical practice
    Genome Med, 17 (1), 124
    DOI 10.1186/s13073-025-01543-4, PubMed 41107899
39. Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M et al. (2025)
    Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
    Nat Commun, 16 (1), 8237
    DOI 10.1038/s41467-025-63507-x, PubMed 40925936
40. Lazado CC, Nhan TH, Voldvik V, Burgerhout E, Sundaram AYM, Tengs T, Østbye TK, Andersen Ø (2025)
    Molecular regulation of cardiomyocyte functions by exogenous hydrogen sulphide in Atlantic salmon (Salmo salar)
    Genomics, 117 (2), 111017
    DOI 10.1016/j.ygeno.2025.111017, PubMed 40010544
41. Lee Y, Gjessing HK, Page CM, Bohlin J, Lyle R, Magnus P, Håberg SE (2025)
    Methylation differences between assisted reproductive technology-conceived and naturally conceived children near BRCA1 and NBR2
    Epigenetics, 20 (1), 2577188
    DOI 10.1080/15592294.2025.2577188, PubMed 41121617
42. Lehtonen J, Hakonen AH, Hassinen A, Lurås SI, Kaustio M, Glumoff V, Hinrichsen F, Li W, Sulonen AM, Wickman S, Almusa H, Polso M, Palomäki M, Kivirikko S, Avela K, Heiskanen K, Pietiäinen V, Aittomäki K, Saarela J (2025)
    Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction
    Hum Mol Genet, 34 (15), 1294-1312
    DOI 10.1093/hmg/ddaf081, PubMed 40401444
43. Lind SM, Sletten M, Henriksson CE, Tinholt M, Iversen N (2025)
    Functional and Regulatory Effects of Factor V Leiden and Factor V rs6028 in Breast Cancer
    Genes (Basel), 16 (7)
    DOI 10.3390/genes16070735, PubMed 40725392
44. Lucas AL, Simeone DM, Katona BW, Paiella S, Zogopoulos G, Sears RC, Grindedal EM, Wadlow RC, Borazanci E, Gordon OK, Kastrinos F, Trevino JG, Kupfer SS, Park WG, Everett JN, Kureshi NM, DeMuth G, Ford L, King T, Palma NA, Brand RE (2025)
    Validation of a Serum-Based Biomarker Signature for Detection of Early-Stage Pancreatic Ductal Adenocarcinoma
    Gastroenterology (in press)
    DOI 10.1053/j.gastro.2025.08.034, PubMed 41143761
45. Mamia K, Kolbeinsdottir S, Labun K, Li Z, Komisarczuk A, Keskitalo S, Reint G, Loe Haugen F, Olaug Lindestad B, Skundberg Jensen S, Gjerdingen TJ, Tuhkala A, Wieczorek Ervik C, Kopcil P, Fatkhutdinov N, Bronken Martinsen KH, Erichsen HC, Szymanska M, Tölö E, Glumoff V, Saarela J, Melbye Michelsen T, Schalin-Jäntti C, Olweus J, Leinonen E et al. (2025)
    Precision T cell correction platform for inborn errors of immunity
    Mol Ther (in press)
    DOI 10.1016/j.ymthe.2025.08.018, PubMed 40808259
46. Martinsen AE, Børte S, Spildrejorde M, Brumpton BM, Heuch I, Zwart JA, Winsvold BS (2025)
    Insights Into Chronic Low Back Pain Etiology: Population-Based Genome-Wide Association Study Identifies 18 Risk Loci
    Spine (Phila Pa 1976), 50 (13), 881-889
    DOI 10.1097/BRS.0000000000005254, PubMed 39812312
47. Melnes T, Bogsrud MP, Christensen JJ, Rundblad A, Retterstøl K, Narverud I, Aukrust P, Halvorsen B, Ulven SM, Holven KB (2025)
    LDL cholesterol burden in elderly patients with familial hypercholesterolemia: Insights from real-world data
    Am J Prev Cardiol, 22, 100986
    DOI 10.1016/j.ajpc.2025.100986, PubMed 40248423
48. Nørstebø SF, Rodriguez-Campos S, Umu ÖCO, Abril-Parreño L, Dalland M, Gilfillan GD, Fair S, Krogenaes A (2025)
    The cervical microbiome of ewe breeds with known divergent fertility following artificial insemination with frozen-thawed semen
    Sci Rep, 15 (1), 14614
    DOI 10.1038/s41598-025-97735-4, PubMed 40287436
49. O'Connell KS, Koromina M, van der Veen T, Boltz T, David FS, Yang JMK, Lin KH, Wang X, Coleman JRI, Mitchell BL, McGrouther CC, Rangan AV, Lind PA, Koch E, Harder A, Parker N, Bendl J, Adorjan K, Agerbo E, Albani D, Alemany S, Alliey-Rodriguez N, Als TD, Andlauer TFM, Antoniou A et al. (2025)
    Genomics yields biological and phenotypic insights into bipolar disorder
    Nature, 639 (8056), 968-975
    DOI 10.1038/s41586-024-08468-9, PubMed 39843750
50. Oakley LL, Kristjansson D, Munthe-Kaas MC, Nguyen HT, Lee Y, Hanevik HI, Romundstad LB, Lyle R, Håberg SE (2025)
    Sex differences in childhood cancer risk following ART conception: a registry-based study
    Hum Reprod, 40 (2), 382-390
    DOI 10.1093/humrep/deae285, PubMed 39724532
51. Ormerod MBEG, Sheikh MA, Ueland T, Hjell G, Rødevand L, Sæther LS, Lunding SH, Johansen IT, Andreou D, Ueland T, Lagerberg TV, Melle I, Djurovic S, Andreassen OA, Steen NE (2025)
    Minor immunomodulatory effects of psychotropics suggested in severe mental disorders: Associations of antipsychotics with beta defensin 2, antidepressants with C-reactive protein, and mood stabilizers with soluble interleukin 2 receptor
    Eur Psychiatry, 68 (1), e140
    DOI 10.1192/j.eurpsy.2025.10104, PubMed 40936381
52. Ormerod MBEG, Ueland T, Aas M, Hjell G, Rødevand L, Sæther LS, Lunding SH, Johansen IT, Mlakar V, Andreou D, Ueland T, Lagerberg TV, Melle I, Djurovic S, Andreassen OA, Steen NE (2025)
    Limited evidence of association between dysregulated immune marker levels and telomere length in severe mental disorders
    Acta Neuropsychiatr, 37, e4
    DOI 10.1017/neu.2024.62, PubMed 39844366
53. Patel D, Tiusanen V, Karttunen K, Pihlajamaa P, Sahu B (2025)
    Cancer cell type-specific derepression of transposable elements by inhibition of chromatin modifier enzymes
    Commun Biol, 8 (1), 992
    DOI 10.1038/s42003-025-08413-0, PubMed 40610675
54. Perry J, Bunnik E, Rietschel M, Bentzen HB, Ingvoldstad Malmgren C, Pawlak J, Chaumette B, Tammimies K, Bialy F, Bizzarri V, Borg I, Coviello D, Crepaz-Keay D, Ivanova E, McQuillin A, Mežinska S, Johansson Soller M, Suvisaari J, Watson M, Wirgenes K, Wynn SL, Degenhardt F, Schicktanz S (2025)
    Unresolved ethical issues of genetic counseling and testing in clinical psychiatry
    Psychiatr Genet, 35 (2), 26-36
    DOI 10.1097/YPG.0000000000000385, PubMed 39945108
55. Pop RT, Hsieh PH, Belova T, Mathelier A, Kuijjer ML (2025)
    Gene regulatory network integration with multi-omics data enhances survival predictions in cancer
    Brief Bioinform, 26 (4)
    DOI 10.1093/bib/bbaf315, PubMed 40619810
56. Ramadan DJ, Kichula KM, Tao S, Porfilio T, Lande A, Fluge Ø, Mella O, Strand EB, Saugstad OD, Norman PJ, Lie BA, Viken MK (2025)
    Killer cell immunoglobulin-like receptor (KIR) alleles suggested to be associated with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS)
    Brain Behav Immun, 130, 106098
    DOI 10.1016/j.bbi.2025.106098, PubMed 40897283
57. Roman G, Lauritzen KH, Harrison SP, Bhattacharya A, Andresen MS, Mowinckel MC, Smolkova B, Henriksson CE, Glosli H, Iversen N, Thiede B, Sullivan GJ, Almaas R, Sandset PM, Stavik B, Chollet ME (2025)
    Ex vivo correction of severe coagulation Factor VII deficiency in patient-derived 3D liver organoids
    Haematologica (in press)
    DOI 10.3324/haematol.2025.288046, PubMed 41063698
58. Roselli C, Surakka I, Olesen MS, Sveinbjornsson G, Marston NA, Choi SH, Holm H, Chaffin M, Gudbjartsson D, Hill MC, Aegisdottir H, Albert CM, Alonso A, Anderson CD, Arking DE, Arnar DO, Barnard J, Benjamin EJ, Braunwald E, Brumpton B, Campbell A, Chami N, Chasman DI, Cho K, Choi EK et al. (2025)
    Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases
    Nat Genet, 57 (3), 539-547
    DOI 10.1038/s41588-024-02072-3, PubMed 40050429
59. Rustad CF, Bragadottir R, Tveten K, Nordgarden H, Miller JU, Åsten PM, Vasconcelos G, Kulseth MA, Holla ØL, Olsen HG, von der Lippe C, Sigurdardottir S (2025)
    Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway
    Orphanet J Rare Dis, 20 (1), 127
    DOI 10.1186/s13023-025-03641-3, PubMed 40087798
60. Rydland A, Heinicke F, Nyman TA, Trøseid AS, Flåm ST, Stensland M, Gehin J, Eikeland J, Øvstebø R, Mjaavatten MD, Lie BA (2025)
    Newly-diagnosed rheumatoid arthritis patients have elevated levels of plasma extracellular vesicles with protein cargo altered towards inflammatory processes
    Sci Rep, 15 (1), 11632
    DOI 10.1038/s41598-025-96325-8, PubMed 40185859
61. Røssevold AH, Tekpli X, Lingjærde OC, Russnes HG, Vallon-Christersson J, Borgen E, Lømo J, Garred Ø, Dorraji E, Kristensen VN, Naume B, Kyte JA (2025)
    High tumor expression of CTLA4 identifies lymph node-negative basal-like breast cancer patients with excellent prognosis
    Commun Med (Lond), 5 (1), 234
    DOI 10.1038/s43856-025-00865-z, PubMed 40523912
62. Schuurmans IK, Smajlagic D, Baltramonaityte V, Malmberg ALK, Neumann A, Creasey N, Felix JF, Tiemeier H, Pingault JB, Czamara D, Raïkkönen K, Page CM, Lyle R, Havdahl A, Lahti J, Walton E, Bekkhus M, Cecil CAM (2025)
    Genetic susceptibility to neurodevelopmental conditions associates with neonatal DNA methylation patterns in the general population: an individual participant data meta-analysis
    Biol Psychiatry (in press)
    DOI 10.1016/j.biopsych.2025.09.005, PubMed 40992585
63. Shadrin AA, Hindley G, Hagen E, Parker N, Tesfaye M, Jaholkowski P, Rahman Z, Kutrolli G, Fominykh V, Djurovic S, Smeland OB, O'Connell KS, van der Meer D, Frei O, Andreassen OA, Dale AM (2025)
    Distinct patterns of genetic overlap among multimorbidities revealed with trivariate MiXeR
    Genome Med, 17 (1), 106
    DOI 10.1186/s13073-025-01528-3, PubMed 41023670
64. Silva AI, Sønderby IE, Kirov G, Abdellaoui A, Agartz I, Ames D, Armstrong NJ, Artiges E, Banaschewski T, Bassett AS, Bearden CE, Blangero J, Boen R, Boomsma DI, Bülow R, Butcher NJ, Calhoun V, Campbell LE, Chow EWC, Ciufolini S, Craig MC, Crespo-Farroco B, Cunningham AC, Dalvie S, Daly E et al. (2025)
    Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology
    Biol Psychiatry Cogn Neurosci Neuroimaging, 10 (10), 1093-1106
    DOI 10.1016/j.bpsc.2025.05.010, PubMed 40414598
65. Sjursen W, Svaasand EK, Gilde B, Ravi A, Korseth KM, Singh AK, Johansen J, Rødningen OK, Sevatdal SG, Hegre SA, Olsen MF, Misund K (2025)
    Lynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review
    Hered Cancer Clin Pract, 23 (1), 22
    DOI 10.1186/s13053-025-00324-9, PubMed 41088395
66. Skei Sekkelsten AI, Skattør TH, Holmstrøm H, Krohg-Sørensen K, Paus B (2025)
    Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report
    Eur J Med Genet, 77, 105035
    DOI 10.1016/j.ejmg.2025.105035, PubMed 40812464
67. Skodvin SN, Gjessing HK, Jugessur A, Romanowska J, Havdahl A, Håberg SE, Hanevik HI, Lyle R, Lie RT, Gjerdevik M (2025)
    Genome-Wide Association Analyses in Family Triads and Dyads Following Assisted Reproductive Technology
    Genet Epidemiol, 49 (5), e70011
    DOI 10.1002/gepi.70011, PubMed 40457613
68. Smit RAJ, Wade KH, Hui Q, Arias JD, Yin X, Christiansen MR, Yengo L, Preuss MH, Nakabuye M, Rocheleau G, Graham SE, Buchanan VL, Chittoor G, Graff M, Guindo-Martínez M, Lu Y, Marouli E, Sakaue S, Spracklen CN, Vedantam S, Wilson EP, Chen SH, Ferreira T, Ji Y, Karaderi T et al. (2025)
    Polygenic prediction of body mass index and obesity through the life course and across ancestries
    Nat Med, 31 (9), 3151-3168
    DOI 10.1038/s41591-025-03827-z, PubMed 40691366
69. Strom NI, Gerring ZF, Galimberti M, Yu D, Halvorsen MW, Abdellaoui A, Rodriguez-Fontenla C, Sealock JM, Bigdeli T, Coleman JR, Mahjani B, Thorp JG, Bey K, Burton CL, Luykx JJ, Zai G, Alemany S, Andre C, Askland KD, Bäckman J, Banaj N, Barlassina C, Nissen JB, Bienvenu OJ, Black D et al. (2025)
    Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder
    Nat Genet, 57 (6), 1389-1401
    DOI 10.1038/s41588-025-02189-z, PubMed 40360802
70. Teigen M, Ølnes ÅS, Bjune K, Bogsrud MP, Strøm TB (2025)
    Functional characterization of genetic variants affecting the intracellular domains of ATP-binding cassette transporter A1 (ABCA1)
    J Lipid Res, 66 (8), 100854
    DOI 10.1016/j.jlr.2025.100854, PubMed 40617357
71. Teigen M, Ølnes ÅS, Bjune K, Leren TP, Bogsrud MP, Strøm TB (2025)
    Corrigendum to: Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay [Journal of Lipid Research 65/1 (2024) 100482]
    J Lipid Res, 66 (9), 100891
    DOI 10.1016/j.jlr.2025.100891, PubMed 40885025
72. Thangavelu PU, Lin CY, Forouz F, Tanaka K, Dray E, Duijf PHG (2025)
    The RB protein: more than a sentry of cell cycle entry
    Trends Mol Med (in press)
    DOI 10.1016/j.molmed.2025.04.001, PubMed 40300971
73. Tsoulia T, Sundaram AYM, Amundsen MM, Aardal MJ, Mira MS, Ploss FB, Faller R, Jensen I, Gjessing MC, Brauner C, Dahle MK (2025)
    Effects of glucocorticoid receptor activation on gene expression and antiviral responses in Atlantic salmon (Salmo salar L.) red blood cells
    Vet Res, 56 (1), 188
    DOI 10.1186/s13567-025-01605-w, PubMed 41057957
74. van der Meer D, Rahman Z, Ottas A, Parekh P, Kutrolli G, Stinson SE, Koromina M, Rokicki J, Sønderby IE, Parker N, Tesfaye M, Hindley G, Rødevand LN, Koch E, Estonian Biobank Research Team, Steen NE, Berg JP, O'Connell KS, Smeland OB, Frei O, Dale AM, Djurovic S, Lehto K, Alver M, Milani L et al. (2025)
    Pleiotropic and sex-specific genetic mechanisms of circulating metabolic markers
    Nat Commun, 16 (1), 4961
    DOI 10.1038/s41467-025-60058-z, PubMed 40436851
75. Vigeland MD, Flåm ST, Vigeland MD, Zucknick M, Wigemyr M, Bråten LCH, Gjefsen E, Zwart JA, Storheim K, Pedersen LM, Lie BA, The Aim Study Group (2025)
    Gene Expression Correlates with Disability and Pain Intensity in Patients with Chronic Low Back Pain and Modic Changes in a Sex-Specific Manner
    Int J Mol Sci, 26 (2)
    DOI 10.3390/ijms26020800, PubMed 39859512
76. Wisløff T, Mundal LJ, Igland J, Svendsen K, Bogsrud MP, Kristiansen IS, Retterstøl K (2025)
    Ten year costs of cardiovascular disease in genetically verified familial hypercholesterolemia compared to age and sex matched controls
    Eur J Prev Cardiol (in press)
    DOI 10.1093/eurjpc/zwaf592, PubMed 40986654
77. Zanti M, O'Mahony DG, Parsons MT, Dorling L, Dennis J, Boddicker NJ, Chen W, Hu C, Naven M, Yiangou K, Ahearn TU, Ambrosone CB, Andrulis IL, Antoniou AC, Auer PL, Baynes C, Bodelon C, Bogdanova NV, Bojesen SE, Bolla MK, Brantley KD, Camp NJ, Campbell A, Castelao JE, Cessna MH et al. (2025)
    Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
    Nat Commun, 16 (1), 4852
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78. Zeitlinger J, Roy S, Ay F, Mathelier A, Medina-Rivera A, Mahony S, Sinha S, Ernst J (2025)
    Perspective on recent developments and challenges in regulatory and systems genomics
    Bioinform Adv, 5 (1), vbaf106
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79. Ølnes ÅS, Teigen M, Laerdahl JK, Leren TP, Strøm TB, Bjune K (2025)
    Correction: Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP
    PLoS One, 20 (9), e0332400
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80. Aaserud LT, Rootwelt-Norberg C, Olsen PAS, Five CK, Castrini AI, Aabel EW, Haugaa KH, Lie ØH (2025)
    Disease Progression in Exercise-Induced Arrhythmogenic Cardiomyopathy Compared With Arrhythmogenic Right Ventricular Cardiomyopathy
    JACC Cardiovasc Imaging, 18 (8), 853-863
    DOI 10.1016/j.jcmg.2025.03.018, PubMed 40637652

Publications 2024

1. Akdeniz BC, Frei O, Hagen E, Filiz TT, Karthikeyan S, Pasman J, Jangmo A, Bergstedt J, Shorter JR, Zetterberg R, Meijsen J, Sønderby IE, Buil A, Tesli M, Lu Y, Sullivan P, Andreassen OA, Hovig E (2024)
   COSGAP: COntainerized Statistical Genetics Analysis Pipelines
   Bioinform Adv, 4 (1), vbae067
   DOI 10.1093/bioadv/vbae067, PubMed 38808072
2. Akman T, Arendt LM, Geisler J, Kristensen VN, Frigessi A, Köhn-Luque A (2024)
   Modeling of Mouse Experiments Suggests that Optimal Anti-Hormonal Treatment for Breast Cancer is Diet-Dependent
   Bull Math Biol, 86 (4), 42
   DOI 10.1007/s11538-023-01253-1, PubMed 38498130
3. Andersson P, Linge J, Gurholt TP, Sønderby IE, Hindley G, Andreassen OA, Dahlqvist Leinhard O (2024)
   Poor muscle health and cardiometabolic risks associated with antidepressant treatment
   Obesity (Silver Spring), 32 (10), 1857-1869
   DOI 10.1002/oby.24085, PubMed 39315407
4. Andreou D, Steen NE, Mørch-Johnsen L, Jørgensen KN, Wortinger LA, Barth C, Szabo A, O'Connell KS, Lekva T, Hjell G, Johansen IT, Ormerod MBEG, Haukvik UK, Aukrust P, Djurovic S, Yolken RH, Andreassen OA, Ueland T, Agartz I (2024)
   Toxoplasma gondii infection associated with inflammasome activation and neuronal injury
   Sci Rep, 14 (1), 5327
   DOI 10.1038/s41598-024-55887-9, PubMed 38438515
5. Anjum M, Ariansen I, Hjellvik V, Selmer R, Kjerpeseth LJ, Skovlund E, Myrstad M, Ellekjær H, Christophersen IE, Tveit A, Berge T (2024)
   Stroke and bleeding risk in atrial fibrillation with CHA2DS2-VASC risk score of one: the Norwegian AFNOR study
   Eur Heart J, 45 (1), 57-66
   DOI 10.1093/eurheartj/ehad659, PubMed 37995254
6. Ankill J, Zhao Z, Tekpli X, Kure EH, Kristensen VN, Mathelier A, Fleischer T (2024)
   Integrative pan-cancer analysis reveals a common architecture of dysregulated transcriptional networks characterized by loss of enhancer methylation
   PLoS Comput Biol, 20 (11), e1012565
   DOI 10.1371/journal.pcbi.1012565, PubMed 39556603
7. Artaza H, Eriksson D, Lavrichenko K, Aranda-Guillén M, Bratland E, Vaudel M, Knappskog P, Husebye ES, Bensing S, Wolff ASB, Kämpe O, Røyrvik EC, Johansson S (2024)
   Rare copy number variation in autoimmune Addison's disease
   Front Immunol, 15, 1374499
   DOI 10.3389/fimmu.2024.1374499, PubMed 38562931
8. Artaza H, Lavrichenko K, Wolff ASB, Røyrvik EC, Vaudel M, Johansson S (2024)
   Rare copy number variant analysis in case-control studies using snp array data: a scalable and automated data analysis pipeline
   BMC Bioinformatics, 25 (1), 357
   DOI 10.1186/s12859-024-05979-0, PubMed 39548362
9. Audunsdottir K, Sartorius AM, Kang H, Glaser BD, Boen R, Nærland T, Alaerts K, Kildal ESM, Westlye LT, Andreassen OA, Quintana DS (2024)
   The effects of oxytocin administration on social and routinized behaviors in autism: A preregistered systematic review and meta-analysis
   Psychoneuroendocrinology, 167, 107067
   DOI 10.1016/j.psyneuen.2024.107067, PubMed 38815399
10. Azar Y, Ludwig TE, Le Bon H, Strøm TB, Bluteau O, Di-Filippo M, Carrié A, Chtioui H, Béliard S, Marmontel O, Fonteille A, Gebhart M, Peretti N, Moulin P, Ferrières J, Pradignac A, Farnier M, Gallo A, Yelnik C, Blom D, Génin E, Bogsrud MP, Leren TP, Boileau C, Abifadel M et al. (2024)
    The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor
    Atherosclerosis, 399, 118596
    DOI 10.1016/j.atherosclerosis.2024.118596, PubMed 39500114
11. Bahrami S, Nordengen K, Rokicki J, Shadrin AA, Rahman Z, Smeland OB, Jaholkowski PP, Parker N, Parekh P, O'Connell KS, Elvsåshagen T, Toft M, Djurovic S, Dale AM, Westlye LT, Kaufmann T, Andreassen OA (2024)
    The genetic landscape of basal ganglia and implications for common brain disorders
    Nat Commun, 15 (1), 8476
    DOI 10.1038/s41467-024-52583-0, PubMed 39353893
12. Balakittnen J, Ekanayake Weeramange C, Wallace DF, Duijf PHG, Cristino AS, Hartel G, Barrero RA, Taheri T, Kenny L, Vasani S, Batstone M, Breik O, Punyadeera C (2024)
    A novel saliva-based miRNA profile to diagnose and predict oral cancer
    Int J Oral Sci, 16 (1), 14
    DOI 10.1038/s41368-023-00273-w, PubMed 38368395
13. Baune BT, Fromme SE, Aberg M, Adli M, Afantitis A, Akkouh I, Andreassen OA, Angulo C, Barlati S, Brasso C, Bucci P, Budde M, Buspavanich P, Cavone V, Demyttenaere K, Diaz-Caneja CM, Dierssen M, Djurovic S, Driessen M, Ebner-Priemer UW, Engelmann J, Englisch S, Fabbri C, Fossati P, Fröhlich H et al. (2024)
    A stratified treatment algorithm in psychiatry: a program on stratified pharmacogenomics in severe mental illness (Psych-STRATA): concept, objectives and methodologies of a multidisciplinary project funded by Horizon Europe
    Eur Arch Psychiatry Clin Neurosci, 275 (5), 1453-1464
    DOI 10.1007/s00406-024-01944-3, PubMed 39729102
14. Beck D, de Lange AG, Gurholt TP, Voldsbekk I, Maximov II, Subramaniapillai S, Schindler L, Hindley G, Leonardsen EH, Rahman Z, van der Meer D, Korbmacher M, Linge J, Leinhard OD, Kalleberg KT, Engvig A, Sønderby I, Andreassen OA, Westlye LT (2024)
    Dissecting unique and common variance across body and brain health indicators using age prediction
    Hum Brain Mapp, 45 (6), e26685
    DOI 10.1002/hbm.26685, PubMed 38647042
15. Bhatia S, Khanna KK, Duijf PHG (2024)
    Targeting chromosomal instability and aneuploidy in cancer
    Trends Pharmacol Sci, 45 (3), 210-224
    DOI 10.1016/j.tips.2024.01.009, PubMed 38355324
16. Birgisdóttir A, Myklebust TÅ, Bjørnslett M, Rognlien VW, Paulsen T, Dørum A (2024)
    BRCA mutation testing and association with oncologic outcome and incidence of ovarian cancer in Norway
    Int J Gynecol Cancer, 35 (2), 100029
    DOI 10.1016/j.ijgc.2024.100029, PubMed 39971428
17. Bjune K, Halvorsen PS, Wangensteen H, Leren TP, Bogsrud MP, Strøm TB (2024)
    Flavonoids regulate LDLR through different mechanisms tied to their specific structures
    J Lipid Res, 65 (5), 100539
    DOI 10.1016/j.jlr.2024.100539, PubMed 38556050
18. Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD (2024)
    Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing
    Eur J Hum Genet, 32 (5), 601-602
    DOI 10.1038/s41431-023-01519-1, PubMed 38172175
19. Boer OD, Wiker T, Bukhari SH, Kjelkenes R, Timpe CMF, Voldsbekk I, Skaug K, Boen R, Karl V, Moberget T, Westlye LT, Franken IHA, El Marroun H, Huster RJ, Tamnes CK (2024)
    Neural markers of error processing relate to task performance, but not to substance-related risks and problems and externalizing problems in adolescence and emerging adulthood
    Dev Cogn Neurosci, 71, 101500
    DOI 10.1016/j.dcn.2024.101500, PubMed 39729859
20. Cangren P, Bertrand YJK, Braverman JM, Gilfillan GD, Hamilton MB, Oxelman B (2024)
    A dataset of 40 assembled and annotated transcriptomes from 34 species in Silene and related genera
    Data Brief, 57, 111094
    DOI 10.1016/j.dib.2024.111094, PubMed 39633972
21. Carrizosa C, Undlien DE, Vigeland MD (2024)
    shinyseg: a web application for flexible cosegregation and sensitivity analysis
    Bioinformatics, 40 (5)
    DOI 10.1093/bioinformatics/btae201, PubMed 38598476
22. Cheval B, Gemechu Y, Shahrouzi P, Zou L (2024)
    Science around the world
    Trends Mol Med, 30 (8), 699-701
    DOI 10.1016/j.molmed.2024.06.013, PubMed 39648584
23. Cobb L, de Muinck E, Kollias S, Skage M, Gilfillan GD, Sydenham MAK, Qiao SW, Star B (2024)
    High-throughput sequencing of insect specimens with sub-optimal DNA preservation using a practical, plate-based Illumina-compatible Tn5 transposase library preparation method
    PLoS One, 19 (3), e0300865
    DOI 10.1371/journal.pone.0300865, PubMed 38517905
24. Davidson AL, Michailidou K, Parsons MT, Fortuno C, Bolla MK, Wang Q, Dennis J, Naven M, Abubakar M, Ahearn TU, Alonso MR, Andrulis IL, Antoniou AC, Auvinen P, Behrens S, Bermisheva MA, Bogdanova NV, Bojesen SE, Brüning T, Byers HJ, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chang-Claude J et al. (2024)
    Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
    Am J Hum Genet, 111 (9), 2059-2069
    DOI 10.1016/j.ajhg.2024.07.004, PubMed 39096911
25. Davidson B, Doutel D, Holth A, Nymoen DA (2024)
    Correction to: Claudin-10 is a new candidate prognostic marker in metastatic high-grade serous carcinoma
    Virchows Arch, 484 (5), 875
    DOI 10.1007/s00428-023-03567-w, PubMed 37261507
26. de la Peña Avalos B, Paquet N, Tropée R, Coulombe Y, Palacios H, Leung JW, Masson JY, Duijf PHG, Dray E (2024)
    The protein phosphatase EYA4 promotes homologous recombination (HR) through dephosphorylation of tyrosine 315 on RAD51
    Nucleic Acids Res, 52 (3), 1173-1187
    DOI 10.1093/nar/gkad1177, PubMed 38084915
27. Dheyauldeen S, Heimdal K, Osnes T, Akre H, Olsson L (2024)
    Choanal atresia: A review of surgical outcomes in a tertiary medical center
    World J Otorhinolaryngol Head Neck Surg, 11 (2), 207-212
    DOI 10.1002/wjo2.196, PubMed 40535749
28. Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M et al. (2024)
    Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
    Science, 384 (6694), eadf5489
    DOI 10.1126/science.adf5489, PubMed 38662826
29. Edel MJ, Casellas HS, Osete JR, Nieto-Nicolau N, Arnalich-Montiel F, De Miguel MP, McLenachan S, Roshandel D, Casaroli-Marano RP, Alvarez-Palomo B (2024)
    An Optimized Method to Produce Human-Induced Pluripotent Stem Cell-Derived Limbal Stem Cells Easily Adaptable for Clinical Use
    Stem Cells Dev, 34 (3-4), 49-60
    DOI 10.1089/scd.2024.0172, PubMed 39689863
30. Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H et al. (2024)
    Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
    Brain, 147 (5), 1822-1836
    DOI 10.1093/brain/awae010, PubMed 38217872
31. Ferenc K, Rauluseviciute I, Hovan L, Kumar V, Kuijjer ML, Mathelier A (2024)
    Improving bioinformatics software quality through teamwork
    Bioinformatics, 40 (11)
    DOI 10.1093/bioinformatics/btae632, PubMed 39436982
32. Fjermeros K, Ghannoum S, Geisler SB, Bhargava S, Tahiri A, Klajic J, Lüders T, Fongård M, Nawaz MS, Bosnjak-Olsen T, Buvarp UE, Rosenskiold AKJ, Nguyen NT, Sletbak TT, Seyedzadeh M, Selsås K, Porojnicu AC, Skjerven HK, Hovda T, Sahlberg KK, Torland LA, Lyngra M, Hammarström CL, Hönigsperger EB, Noone JC et al. (2024)
    The NEOLETRIB trial: neoadjuvant treatment with Letrozole and Ribociclib in ER-positive, HER2-negative breast cancer
    Future Oncol, 20 (32), 2457-2466
    DOI 10.1080/14796694.2024.2377531, PubMed 39073142
33. Fleischer T, Haugen MH, Ankill J, Silwal-Pandit L, Børresen-Dale AL, Hedenfalk I, Hatschek T, Tost J, Engebraaten O, Kristensen VN (2024)
    An integrated omics approach highlights how epigenetic events can explain and predict response to neoadjuvant chemotherapy and bevacizumab in breast cancer
    Mol Oncol, 18 (8), 2042-2059
    DOI 10.1002/1878-0261.13656, PubMed 38671580
34. García-Marín LM, Campos AI, Diaz-Torres S, Rabinowitz JA, Ceja Z, Mitchell BL, Grasby KL, Thorp JG, Agartz I, Alhusaini S, Ames D, Amouyel P, Andreassen OA, Arfanakis K, Arias-Vasquez A, Armstrong NJ, Athanasiu L, Bastin ME, Beiser AS, Bennett DA, Bis JC, Boks MPM, Boomsma DI, Brodaty H, Brouwer RM et al. (2024)
    Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries
    Nat Genet, 56 (11), 2333-2344
    DOI 10.1038/s41588-024-01951-z, PubMed 39433889
35. Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S, Riazuddin S (2024)
    Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
    Commun Biol, 7 (1), 831
    DOI 10.1038/s42003-024-06466-1, PubMed 38977784
36. Gilani N, Bitarafan F, Ozaslan M, Åsheim S, Heidari M, Garshasbi M (2024)
    Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature
    Mol Genet Genomic Med, 12 (6), e2476
    DOI 10.1002/mgg3.2476, PubMed 38888203
37. Grindedal EM, Zucknick M, Stormorken A, Rønne E, Tandstad NM, Isaacs WB, Axcrona K, Mæhle L (2024)
    Outcomes of 10 years of PSA screening for prostate cancer in Norwegian men with Lynch syndrome
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98. Spildrejorde M, Leithaug M, Samara A, Aass HCD, Sharma A, Acharya G, Nordeng H, Gervin K, Lyle R (2024)
    Citalopram exposure of hESCs during neuronal differentiation identifies dysregulated genes involved in neurodevelopment and depression
    Front Cell Dev Biol, 12, 1428538
    DOI 10.3389/fcell.2024.1428538, PubMed 39055655
99. Srinivasan S, Kryza T, Bock N, Tse BWC, Sokolowski KA, Janaththani P, Fernando A, Moya L, Stephens C, Dong Y, Röhl J, Alinezhad S, Vela I, Perry-Keene JL, Buzacott K, Nica R, IMPACT Study, Gago-Dominguez M, PROFILE Study Steering Committee, Schleutker J, Maier C, Muir K, Tangen CM, Gronberg H, Pashayan N et al. (2024)
    A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer
    Nat Commun, 15 (1), 9587
    DOI 10.1038/s41467-024-52472-6, PubMed 39505858
100. Staff AC, Fjeldstad HE, Olsen MB, Øgaard J, Viken MK, Kramer CSM, Eikmans M, Kroneis T, Sallinger K, Kanaan SB, Sugulle M, Jacobsen DP (2024)
     Foetal Microchimerism Correlates With Foetal-Maternal Histocompatibility Both During Pregnancy and Postpartum
     HLA, 104 (4), e15717
     DOI 10.1111/tan.15717, PubMed 39435899
101. Stava TT, Berge KE, Haugaa KH, Smedsrud MK, Leren TP, Bogsrud MP (2024)
     Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory
     Clin Genet, 106 (5), 585-602
     DOI 10.1111/cge.14593, PubMed 39073097
102. Stefansson H, Walters GB, Sveinbjornsson G, Tragante V, Einarsson G, Helgason H, Sigurðsson A, Beyter D, Snaebjarnarson AS, Ivarsdottir EV, Thorleifsson G, Halldorsson BV, Norddahl G, Styrkarsdottir U, Sturluson A, Holm H, Helgason A, Moore K, Eggertsson HP, Oddsson AH, Jonsdottir GA, Gunnarsson AF, Bjornsdottir G, Gisladottir RS, Thorgeirsson TE et al. (2024)
     Homozygosity for R47H in TREM2 and the Risk of Alzheimer's Disease
     N Engl J Med, 390 (23), 2217-2219
     DOI 10.1056/NEJMc2314334, PubMed 38899702
103. Szabo A, Akkouh I, Osete JR, de Assis DR, Kondratskaya E, Hughes T, Ueland T, Andreassen OA, Djurovic S (2024)
     NLRP3 inflammasome mediates astroglial dysregulation of innate and adaptive immune responses in schizophrenia
     Brain Behav Immun, 124, 144-156
     DOI 10.1016/j.bbi.2024.11.030, PubMed 39617069
104. Szabo A, O'Connell KS, Akkouh IA, Ueland T, Sønderby IE, Hope S, Røe AB, Dønnum MS, Sjaastad I, Steen NE, Ueland T, Sæther LS, Osete JR, Andreassen OA, Nærland T, Djurovic S (2024)
     Elevated levels of peripheral and central nervous system immune markers reflect innate immune dysregulation in autism spectrum disorder
     Psychiatry Res, 342, 116245
     DOI 10.1016/j.psychres.2024.116245, PubMed 39481220
105. Sæther LS, Szabo A, Akkouh IA, Haatveit B, Mohn C, Vaskinn A, Aukrust P, Ormerod MBEG, Eiel Steen N, Melle I, Djurovic S, Andreassen OA, Ueland T, Ueland T (2024)
     Cognitive and inflammatory heterogeneity in severe mental illness: Translating findings from blood to brain
     Brain Behav Immun, 118, 287-299
     DOI 10.1016/j.bbi.2024.03.014, PubMed 38461955
106. Tesfaye M, Jaholkowski P, Shadrin AA, van der Meer D, Hindley GFL, Holen B, Parker N, Parekh P, Birkenæs V, Rahman Z, Bahrami S, Kutrolli G, Frei O, Djurovic S, Dale AM, Smeland OB, O'Connell KS, Andreassen OA (2024)
     Identification of novel genomic loci for anxiety symptoms and extensive genetic overlap with psychiatric disorders
     Psychiatry Clin Neurosci, 78 (12), 783-791
     DOI 10.1111/pcn.13742, PubMed 39301620
107. Tinholt M, Tekpli X, Torland LA, Tahiri A, Geisler J, Kristensen V, Sandset PM, Iversen N (2024)
     The breast cancer coagulome in the tumor microenvironment and its role in prognosis and treatment response to chemotherapy
     J Thromb Haemost, 22 (5), 1319-1335
     DOI 10.1016/j.jtha.2024.01.003, PubMed 38237862
108. Tissink EP, Shadrin AA, van der Meer D, Parker N, Hindley G, Roelfs D, Frei O, Fan CC, Nagel M, Nærland T, Budisteanu M, Djurovic S, Westlye LT, van den Heuvel MP, Posthuma D, Kaufmann T, Dale AM, Andreassen OA (2024)
     Abundant pleiotropy across neuroimaging modalities identified through a multivariate genome-wide association study
     Nat Commun, 15 (1), 2655
     DOI 10.1038/s41467-024-46817-4, PubMed 38531894
109. Torland LA, Lai X, Kumar S, Riis MH, Geisler J, Lüders T, Tekpli X, Kristensen V, Sahlberg K, Tahiri A (2024)
     Benign breast tumors may arise on different immunological backgrounds
     Mol Oncol, 18 (10), 2495-2509
     DOI 10.1002/1878-0261.13655, PubMed 38757377
110. Tsoulia T, Sundaram AY, Amundsen MM, Rimstad E, Wessel Ø, Jørgensen JB, Dahle MK (2024)
     Comparison of transcriptome responses in blood cells of Atlantic salmon infected by three genotypes of Piscine orthoreovirus
     Fish Shellfish Immunol, 157, 110088
     DOI 10.1016/j.fsi.2024.110088, PubMed 39662648
111. Tsoulia T, Sundaram AYM, Braaen S, Jørgensen JB, Rimstad E, Wessel Ø, Dahle MK (2024)
     Transcriptomics of early responses to purified Piscine orthoreovirus-1 in Atlantic salmon (Salmo salar L.) red blood cells compared to non-susceptible cell lines
     Front Immunol, 15, 1359552
     DOI 10.3389/fimmu.2024.1359552, PubMed 38420125
112. van der Meer D, Cheng W, Rokicki J, Fernandez-Cabello S, Shadrin A, Smeland OB, Ehrhart F, Gülöksüz S, Pries LK, Lin B, Rutten BPF, van Os J, O'Donovan M, Richards AL, Steen NE, Djurovic S, Westlye LT, Andreassen OA, Kaufmann T, Genetic Risk and Outcome of Psychosis investigators (GROUP), European Network of National Schizophrenia Networks Studying Gene-Environment Interactions Work Package 6 (EU-GEI WP6) (2024)
     Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation
     Schizophr Bull, 50 (2), 327-338
     DOI 10.1093/schbul/sbad140, PubMed 37824720
113. Wortinger LA, Stavrum AK, Shadrin AA, Szabo A, Rukke SH, Nerland S, Smelror RE, Jørgensen KN, Barth C, Andreou D, Weibell MA, Djurovic S, Andreassen OA, Thoresen M, Ursini G, Agartz I, Le Hellard S (2024)
     Divergent epigenetic responses to perinatal asphyxia in severe mental disorders
     Transl Psychiatry, 14 (1), 16
     DOI 10.1038/s41398-023-02709-7, PubMed 38191519
114. Wu C, Gunnarsson EB, Myklebust EM, Köhn-Luque A, Tadele DS, Enserink JM, Frigessi A, Foo J, Leder K (2024)
     Using birth-death processes to infer tumor subpopulation structure from live-cell imaging drug screening data
     PLoS Comput Biol, 20 (3), e1011888
     DOI 10.1371/journal.pcbi.1011888, PubMed 38446830
115. Yiangou K, Mavaddat N, Dennis J, Zanti M, Wang Q, Bolla MK, Abubakar M, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baten A, Behrens S, Bermisheva M, Berrington de Gonzalez A, Białkowska K, Boddicker N, Bodelon C, Bogdanova NV, Bojesen SE, Brantley KD, Brauch H et al. (2024)
     Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction
     Breast Cancer Res, 26 (1), 189
     DOI 10.1186/s13058-024-01947-x, PubMed 39734228
116. Ørstavik K, Solbakken G, Rasmussen M, Sanaker PS, Fossmo HL, Bryne E, Knutsen-Øy T, Elgsås T, Heiberg A (2024)
     Rettelse: Dystrofia myotonika type 1 – en multiorgansykdom
     Tidsskr Nor Laegeforen, 144
     DOI 10.4045/tidsskr.24.0236, PubMed 38738573
117. Aanes H, Vigeland MD, Star B, Gilfillan GD, Mattingsdal M, Trøan S, Strand M, Eide LM, Hanssen EN (2024)
     Heating up three cold cases in Norway using investigative genetic genealogy
     Forensic Sci Int Genet, 76, 103217
     DOI 10.1016/j.fsigen.2024.103217, PubMed 39787642

Publications 2023

1. Adams MN, Croft LV, Urquhart A, Saleem MAM, Rockstroh A, Duijf PHG, Thomas PB, Ferguson GP, Najib IM, Shah ET, Bolderson E, Nagaraj S, Williams ED, Nelson CC, O'Byrne KJ, Richard DJ (2023)
   hSSB1 (NABP2/OBFC2B) modulates the DNA damage and androgen-induced transcriptional response in prostate cancer
   Prostate, 83 (7), 628-640
   DOI 10.1002/pros.24496, PubMed 36811381
2. Akkouh IA, Ueland T, Szabo A, Hughes T, Smeland OB, Andreassen OA, Osete JR, Djurovic S (2023)
   Longitudinal Transcriptomic Analysis of Human Cortical Spheroids Identifies Axonal Dysregulation in the Prenatal Brain as a Mediator of Genetic Risk for Schizophrenia
   Biol Psychiatry, 95 (7), 687-698
   DOI 10.1016/j.biopsych.2023.08.017, PubMed 37661009
3. Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, Melheim M, Sorte HS, Cízková D, Reims HM, Bezrouk A, Harrison SP, Strand J, Hermansen JU, Andersen SS, Eiklid KL, Mokrý J, Sullivan GJ, Stray-Pedersen A (2023)
   Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
   J Hepatol, 79 (4), 945-954
   DOI 10.1016/j.jhep.2023.05.037, PubMed 37328071
4. Álvarez I, Tirado-Herranz A, Alvarez-Palomo B, Osete JR, Edel MJ (2023)
   Proteomic Analysis of Human iPSC-Derived Neural Stem Cells and Motor Neurons Identifies Proteasome Structural Alterations
   Cells, 12 (24)
   DOI 10.3390/cells12242800, PubMed 38132120
5. Andersen EL, Solberg MG, Walle-Hansen MM, Enger S, Onarheim S, Olufsen M, Berge T, Christophersen IE, Ulimoen SR, Tveit A (2023)
   Feasibility of Patient-Managed ECG Recordings to Detect the Time of Atrial Fibrillation Recurrence after Electrical Cardioversion: Results from the PRE-ELECTRIC Study
   Cardiology, 148 (4), 347-352
   DOI 10.1159/000530304, PubMed 37040720
6. Asl ER, Rostamzadeh D, Duijf PHG, Mafi S, Mansoori B, Barati S, Cho WC, Mansoori B (2023)
   Mutant P53 in the formation and progression of the tumor microenvironment: Friend or foe
   Life Sci, 315, 121361
   DOI 10.1016/j.lfs.2022.121361, PubMed 36608871
7. Bang L, Bahrami S, Hindley G, Smeland OB, Rødevand L, Jaholkowski PP, Shadrin A, Connell KSO, Frei O, Lin A, Rahman Z, Cheng W, Parker N, Fan CC, Dale AM, Djurovic S, Bulik CM, Andreassen OA (2023)
   Genome-wide analysis of anorexia nervosa and major psychiatric disorders and related traits reveals genetic overlap and identifies novel risk loci for anorexia nervosa
   Transl Psychiatry, 13 (1), 291
   DOI 10.1038/s41398-023-02585-1, PubMed 37658054
8. 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 (2023)
   Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
   BMC Cancer, 23 (1), 368
   DOI 10.1186/s12885-023-10790-w, PubMed 37085799
9. Bhatia S, Gunter JH, Burgess JT, Adams MN, O'Byrne K, Thompson EW, Duijf PH (2023)
   Stochastic epithelial-mesenchymal transitions diversify non-cancerous lung cell behaviours
   Transl Oncol, 37, 101760
   DOI 10.1016/j.tranon.2023.101760, PubMed 37611490
10. Birkenæs V, Refsum Bakken N, Frei E, Jaholkowski P, Smeland OB, Tesfaye M, Agartz I, Susser E, Bresnahan M, Røysamb E, Nordbø Jørgensen K, Nesvåg R, Havdahl A, Andreassen OA, Elken Sønderby I (2023)
    Psychometric Properties and Diagnostic Associations of the Short-Form Community Assessment of Psychic Experiences in a Population-Based Sample of 29 021 Adult Men
    Schizophr Bull, 49 (5), 1229-1238
    DOI 10.1093/schbul/sbad074, PubMed 37262330
11. Bitarafan F, Khodaeian M, Garrousi F, Khalesi R, Ghazi Nader D, Karimi B, Alibakhshi R, Garshasbi M (2023)
    Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
    BMC Endocr Disord, 23 (1), 155
    DOI 10.1186/s12902-023-01388-1, PubMed 37474955
12. Bitter H, Midtvedt Ø, Gunnarsson R, Lande A (2023)
    [A woman in her thirties with frequent mucosal ulcers]
    Tidsskr Nor Laegeforen, 143 (8)
    DOI 10.4045/tidsskr.22.0650, PubMed 37254975
13. Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD (2023)
    A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
    Eur J Hum Genet, 32 (5), 513-520
    DOI 10.1038/s41431-023-01494-7, PubMed 38030917
14. Boen R, Kaufmann T, Frei O, van der Meer D, Djurovic S, Andreassen OA, Selmer KK, Alnæs D, Sønderby IE (2023)
    No signs of neurodegenerative effects in 15q11.2 BP1-BP2 copy number variant carriers in the UK Biobank
    Transl Psychiatry, 13 (1), 61
    DOI 10.1038/s41398-023-02358-w, PubMed 36807331
15. Boen R, Kaufmann T, van der Meer D, Frei O, Agartz I, Ames D, Andersson M, Armstrong NJ, Artiges E, Atkins JR, Bauer J, Benedetti F, Boomsma DI, Brodaty H, Brosch K, Buckner RL, Cairns MJ, Calhoun V, Caspers S, Cichon S, Corvin AP, Crespo-Facorro B, Dannlowski U, David FS, de Geus EJC et al. (2023)
    Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers
    Biol Psychiatry, 95 (2), 147-160
    DOI 10.1016/j.biopsych.2023.08.018, PubMed 37661008
16. Brun MK, Bjørlykke KH, Viken MK, Stenvik GE, Klaasen RA, Gehin JE, Warren DJ, Sexton J, Sandanger Ø, Kvien TK, Mørk C, Haavardsholm EA, Jahnsen J, Goll GL, Lie BA, Bolstad N, Jørgensen KK, Syversen SW (2023)
    HLA-DQ2 is associated with anti-drug antibody formation to infliximab in patients with immune-mediated inflammatory diseases
    J Intern Med, 293 (5), 648-655
    DOI 10.1111/joim.13616, PubMed 36843323
17. Chaudhry FA, Sajjad TA, Heiberg A (2023)
    Søskenbarn bør kunne gifte seg
    Tidsskr Nor Laegeforen, 143 (18)
    DOI 10.4045/tidsskr.23.0733, PubMed 38088291
18. Cheng W, Parker N, Karadag N, Koch E, Hindley G, Icick R, Shadrin A, O'Connell KS, Bjella T, Bahrami S, Rahman Z, Tesfaye M, Jaholkowski P, Rødevand L, Holen B, Lagerberg TV, Steen NE, Djurovic S, Dale AM, Frei O, Smeland OB, Andreassen OA (2023)
    The relationship between cannabis use, schizophrenia, and bipolar disorder: a genetically informed study
    Lancet Psychiatry, 10 (6), 441-451
    DOI 10.1016/S2215-0366(23)00143-8, PubMed 37208114
19. Cockerell I, Christensen J, Hoei-Hansen CE, Holst L, Grenaa Frederiksen M, Issa-Epe AI, Nedregaard B, Solhoff R, Heimdal K, Johannessen Landmark C, Lund C, Nærland T (2023)
    Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
    Orphanet J Rare Dis, 18 (1), 377
    DOI 10.1186/s13023-023-02982-1, PubMed 38042867
20. Dahll LK, Westbye AB, Vinorum K, Sejersted Y, Barøy T, Thorsby PM, Hammerstad SS (2023)
    Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha
    J Endocr Soc, 7 (8), bvad089
    DOI 10.1210/jendso/bvad089, PubMed 37469961
21. Darst BF, Shen J, Madduri RK, Rodriguez AA, Xiao Y, Sheng X, Saunders EJ, Dadaev T, Brook MN, Hoffmann TJ, Muir K, Wan P, Le Marchand L, Wilkens L, Wang Y, Schleutker J, MacInnis RJ, Cybulski C, Neal DE, Nordestgaard BG, Nielsen SF, Batra J, Clements JA, Cancer BioResource AP, Grönberg H et al. (2023)
    Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
    Am J Hum Genet, 110 (7), 1200-1206
    DOI 10.1016/j.ajhg.2023.05.010, PubMed 37311464
22. Davidson B, Doutel D, Holth A, Nymoen DA (2023)
    Claudin-10 is a new candidate prognostic marker in metastatic high-grade serous carcinoma
    Virchows Arch, 482 (6), 975-982
    DOI 10.1007/s00428-023-03541-6, PubMed 37067588
23. de Graaf M, Langeveld J, Post J, Carrizosa C, Franz E, Izquierdo-Lara RW, Elsinga G, Heijnen L, Been F, van Beek J, Schilperoort R, Vriend R, Fanoy E, de Schepper EIT, Koopmans MPG, Medema G (2023)
    Capturing the SARS-CoV-2 infection pyramid within the municipality of Rotterdam using longitudinal sewage surveillance
    Sci Total Environ, 883, 163599
    DOI 10.1016/j.scitotenv.2023.163599, PubMed 37100150
24. de la Peña Avalos B, Tropée R, Duijf PHG, Dray E (2023)
    EYA4 promotes breast cancer progression and metastasis through its role in replication stress avoidance
    Mol Cancer, 22 (1), 158
    DOI 10.1186/s12943-023-01861-4, PubMed 37777742
25. de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M et al. (2023)
    Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
    Nat Commun, 14 (1), 716
    DOI 10.1038/s41467-023-36192-x, PubMed 36759603
26. Diaz-Lundahl S, Nørstebø SF, Klem TB, Gilfillan GD, Dalland M, Gillund P, Krogenæs A (2023)
    The microbiota of uterine biopsies, cytobrush and vaginal swabs at artificial insemination in Norwegian red cows
    Theriogenology, 209, 115-125
    DOI 10.1016/j.theriogenology.2023.06.024, PubMed 37390751
27. Docherty AR, Mullins N, Ashley-Koch AE, Qin X, Coleman JRI, Shabalin A, Kang J, Murnyak B, Wendt F, Adams M, Campos AI, DiBlasi E, Fullerton JM, Kranzler HR, Bakian AV, Monson ET, Rentería ME, Walss-Bass C, Andreassen OA, Behera C, Bulik CM, Edenberg HJ, Kessler RC, Mann JJ, Nurnberger JI et al. (2023)
    GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors
    Am J Psychiatry, 180 (10), 723-738
    DOI 10.1176/appi.ajp.21121266, PubMed 37777856
28. Falch CM, Arlien-Søborg MC, Dal J, Sundaram AYM, Michelsen AE, Ueland T, Olsen LG, Heck A, Bollerslev J, Jørgensen JOL, Olarescu NC (2023)
    Gene expression profiling of subcutaneous adipose tissue reveals new biomarkers in acromegaly
    Eur J Endocrinol, 188 (3)
    DOI 10.1093/ejendo/lvad031, PubMed 36895180
29. Figlioli G, Billaud A, Ahearn TU, Antonenkova NN, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blok MJ, Bogdanova NV, Bonanni B, Burwinkel B, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chanock SJ, NBCS Collaborators, Czene K, Devilee P, Dörk T, Engel C, Eriksson M, Fasching PA et al. (2023)
    FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
    Eur J Hum Genet, 31 (5), 578-587
    DOI 10.1038/s41431-022-01257-w, PubMed 36707629
30. Figlioli G, Billaud A, Wang Q, Bolla MK, Dennis J, Lush M, Kvist A, Adank MA, Ahearn TU, Antonenkova NN, Auvinen P, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bonanni B, Brüning T, Camp NJ, Campbell A, Castelao JE, Cessna MH, Nbcs Collaborators, Czene K, Devilee P, Dörk T et al. (2023)
    Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
    Cancers (Basel), 15 (13)
    DOI 10.3390/cancers15133313, PubMed 37444426
31. Fominykh V, Shadrin AA, Jaholkowski PP, Bahrami S, Athanasiu L, Wightman DP, Uffelmann E, Posthuma D, Selbæk G, Dale AM, Djurovic S, Frei O, Andreassen OA (2023)
    Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system
    Neurobiol Dis, 183, 106174
    DOI 10.1016/j.nbd.2023.106174, PubMed 37286172
32. Fornes O, Av-Shalom TV, Korecki AJ, Farkas RA, Arenillas DJ, Mathelier A, Simpson EM, Wasserman WW (2023)
    OnTarget: in silico design of MiniPromoters for targeted delivery of expression
    Nucleic Acids Res, 51 (W1), W379-W386
    DOI 10.1093/nar/gkad375, PubMed 37166953
33. Frerker N, Karlsen TA, Stensland M, Nyman TA, Rayner S, Brinchmann JE (2023)
    Comparison between articular chondrocytes and mesenchymal stromal cells for the production of articular cartilage implants
    Front Bioeng Biotechnol, 11, 1116513
    DOI 10.3389/fbioe.2023.1116513, PubMed 36896010
34. Gamage TH, Grabmayr H, Horvath F, Fahrner M, Misceo D, Louch WE, Gunnes G, Pullisaar H, Reseland JE, Lyngstadaas SP, Holmgren A, Amundsen SS, Rathner P, Cerofolini L, Ravera E, Krobath H, Luchinat C, Renger T, Müller N, Romanin C, Frengen E (2023)
    A single amino acid deletion in the ER Ca²⁺ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation
    Sci Signal, 16 (771), eadd0509
    DOI 10.1126/scisignal.add0509, PubMed 36749824
35. Haftorn KL, Denault WRP, Lee Y, Page CM, Romanowska J, Lyle R, Næss ØE, Kristjansson D, Magnus PM, Håberg SE, Bohlin J, Jugessur A (2023)
    Nucleated red blood cells explain most of the association between DNA methylation and gestational age
    Commun Biol, 6 (1), 224
    DOI 10.1038/s42003-023-04584-w, PubMed 36849614
36. Hamis S, Somervuo P, Ågren JA, Tadele DS, Kesseli J, Scott JG, Nykter M, Gerlee P, Finkelshtein D, Ovaskainen O (2023)
    Spatial cumulant models enable spatially informed treatment strategies and analysis of local interactions in cancer systems
    J Math Biol, 86 (5), 68
    DOI 10.1007/s00285-023-01903-x, PubMed 37017776
37. Heimli M, Flåm ST, Hjorthaug HS, Trinh D, Frisk M, Dumont KA, Ribarska T, Tekpli X, Saare M, Lie BA (2023)
    Multimodal human thymic profiling reveals trajectories and cellular milieu for T agonist selection
    Front Immunol, 13, 1092028
    DOI 10.3389/fimmu.2022.1092028, PubMed 36741401
38. Heimli M, Tennebø Flåm S, Sagsveen Hjorthaug H, Bjørnstad PM, Chernigovskaya M, Le QK, Tekpli X, Greiff V, Lie BA (2023)
    Human thymic putative CD8αα precursors exhibit a biased TCR repertoire in single cell AIRR-seq
    Sci Rep, 13 (1), 17714
    DOI 10.1038/s41598-023-44693-4, PubMed 37853083
39. Hindley G, Drange OK, Lin A, Kutrolli G, Shadrin AA, Parker N, O'Connell KS, Rødevand L, Cheng W, Bahrami S, Karadag N, Holen B, Jaholkowski P, Woldeyohannes MT, Djurovic S, Dale AM, Frei O, Ueland T, Smeland OB, Andreassen OA (2023)
    Cross-trait genome-wide association analysis of C-reactive protein level and psychiatric disorders
    Psychoneuroendocrinology, 157, 106368
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