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Publications (original articles or review articles) published in 2024 from OUS - Department of Medical Genetics

37 publications found

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

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

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

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

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

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

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

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 (in press)
DOI 10.1016/j.jlr.2024.100539, PubMed 38556050

Carrizosa C, Undlien DE, Vigeland MD (2024)
shinyseg: a web application for flexible cosegregation and sensitivity analysis
Bioinformatics (in press)
DOI 10.1093/bioinformatics/btae201, PubMed 38598476

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

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

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

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 (in press)
DOI 10.1093/brain/awae010, PubMed 38217872

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
Prostate (in press)
DOI 10.1002/pros.24711, PubMed 38629217

Gurholt TP, Borda MG, Parker N, Fominykh V, Kjelkenes R, Linge J, van der Meer D, Sønderby IE, Duque G, Westlye LT, Aarsland D, Andreassen OA (2024)
Linking sarcopenia, brain structure and cognitive performance: a large-scale UK Biobank study
Brain Commun, 6 (2), fcae083
DOI 10.1093/braincomms/fcae083, PubMed 38510210

Hendricks LAJ, Verbeek KCJ, Schuurs-Hoeijmakers JHM, Mensenkamp AR, Brems H, de Putter R, Anastasiadou VC, Villy MC, Jahn A, Steinke-Lange V, Baldassarri M, Irmejs A, de Jong MM, Links TP, Leter EM, Bosch DGM, Høberg-Vetti H, Tveit Haavind M, Jørgensen K, Mæhle L, Blatnik A, Brunet J, Darder E, Tham E, Hoogerbrugge N et al. (2024)
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
Cancers (Basel), 16 (5)
DOI 10.3390/cancers16050953, PubMed 38473316

Holmgren A, Akkouh I, O'Connell KS, Osete JR, Bjørnstad PM, Djurovic S, Hughes T (2024)
Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples
Mol Psychiatry (in press)
DOI 10.1038/s41380-023-02398-0, PubMed 38351171

Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M et al. (2024)
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
Brain, 147 (4), 1197-1205
DOI 10.1093/brain/awad434, PubMed 38141063

King ES, Tadele DS, Pierce B, Hinczewski M, Scott JG (2024)
Diverse mutant selection windows shape spatial heterogeneity in evolving populations
PLoS Comput Biol, 20 (2), e1011878
DOI 10.1371/journal.pcbi.1011878, PubMed 38386690

Koch E, Kämpe A, Alver M, Sigurðarson S, Einarsson G, Partanen J, Smith RL, Jaholkowski P, Taipale H, Lähteenvuo M, Steen NE, Smeland OB, Djurovic S, Molden E, FinnGen, Estonian Biobank Research Team, Sigurdsson E, Stefánsson H, Stefánsson K, Palotie A, Milani L, O'Connell KS, Andreassen OA (2024)
Polygenic liability for antipsychotic dosage and polypharmacy - a real-world registry and biobank study
Neuropsychopharmacology (in press)
DOI 10.1038/s41386-023-01792-0, PubMed 38184734

Koch E, Pardiñas AF, O'Connell KS, Selvaggi P, Camacho Collados J, Babic A, Marshall SE, Van der Eycken E, Angulo C, Lu Y, Sullivan PF, Dale AM, Molden E, Posthuma D, White N, Schubert A, Djurovic S, Heimer H, Stefánsson H, Stefánsson K, Werge T, Sønderby I, O'Donovan MC, Walters JTR, Milani L et al. (2024)
How Real-World Data Can Facilitate the Development of Precision Medicine Treatment in Psychiatry
Biol Psychiatry (in press)
DOI 10.1016/j.biopsych.2024.01.001, PubMed 38185234

Kopal J, Kumar K, Shafighi K, Saltoun K, Modenato C, Moreau CA, Huguet G, Jean-Louis M, Martin CO, Saci Z, Younis N, Douard E, Jizi K, Beauchamp-Chatel A, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Draganski B, Sønderby IE, Andreassen OA, Glahn DC et al. (2024)
Using rare genetic mutations to revisit structural brain asymmetry
Nat Commun, 15 (1), 2639
DOI 10.1038/s41467-024-46784-w, PubMed 38531844

Lehtonen J, Sulonen AM, Almusa H, Lehtokari VL, Johari M, Palva A, Hakonen AH, Wartiovaara K, Lehesjoki AE, Udd B, Wallgren-Pettersson C, Pelin K, Savarese M, Saarela J (2024)
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
Sci Rep, 14 (1), 4306
DOI 10.1038/s41598-024-54866-4, PubMed 38383731

Lind SM, Sletten M, Hellenes M, Mathelier A, Tekpli X, Tinholt M, Iversen N (2024)
Coagulation factor V in breast cancer: a p53-regulated tumor suppressor and predictive marker for treatment response to chemotherapy
J Thromb Haemost (in press)
DOI 10.1016/j.jtha.2024.02.008, PubMed 38382738

Melnes T, Bogsrud MP, Christensen JJ, Rundblad A, Narverud I, Retterstøl K, Aukrust P, Halvorsen B, Ulven SM, Holven KB (2024)
Gene expression profiling in elderly patients with familial hypercholesterolemia with and without coronary heart disease
Atherosclerosis, 392, 117507 (in press)
DOI 10.1016/j.atherosclerosis.2024.117507, PubMed 38663317

Nurmi K, Silventoinen K, Keskitalo S, Rajamäki K, Kouri VP, Kinnunen M, Jalil S, Maldonado R, Wartiovaara K, Nievas EI, Denita-Juárez SP, Duncan CJA, Kuismin O, Saarela J, Romo I, Martelius T, Parantainen J, Beklen A, Bilicka M, Matikainen S, Nordström DC, Kaustio M, Wartiovaara-Kautto U, Kilpivaara O, Klein C et al. (2024)
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis
Cell Rep Med, 5 (4), 101503
DOI 10.1016/j.xcrm.2024.101503, PubMed 38593810

Rauluseviciute I, Riudavets-Puig R, Blanc-Mathieu R, Castro-Mondragon JA, Ferenc K, Kumar V, Lemma RB, Lucas J, Chèneby J, Baranasic D, Khan A, Fornes O, Gundersen S, Johansen M, Hovig E, Lenhard B, Sandelin A, Wasserman WW, Parcy F, Mathelier A (2024)
JASPAR 2024: 20th anniversary of the open-access database of transcription factor binding profiles
Nucleic Acids Res, 52 (D1), D174-D182
DOI 10.1093/nar/gkad1059, PubMed 37962376

Rørtveit G, Knudsen GPS (2024)
[Not Available]
Tidsskr Nor Laegeforen, 144 (5)
DOI 10.4045/tidsskr.24.0102, PubMed 38651720

Sartorius AM, Rokicki J, Birkeland S, Bettella F, Barth C, de Lange AG, Haram M, Shadrin A, Winterton A, Steen NE, Schwarz E, Stein DJ, Andreassen OA, van der Meer D, Westlye LT, Theofanopoulou C, Quintana DS (2024)
An evolutionary timeline of the oxytocin signaling pathway
Commun Biol, 7 (1), 471
DOI 10.1038/s42003-024-06094-9, PubMed 38632466

Seton KA, Espejo-Oltra JA, Giménez-Orenga K, Haagmans R, Ramadan DJ, Mehlsen J, European ME Research Group for Early Career Researchers (Young EMERG) (2024)
Advancing Research and Treatment: An Overview of Clinical Trials in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and Future Perspectives
J Clin Med, 13 (2)
DOI 10.3390/jcm13020325, PubMed 38256459

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

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 (in press)
DOI 10.1016/j.jtha.2024.01.003, PubMed 38237862

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

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

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, , (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

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

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