Publika - Scientific publications from Oslo University Hospital

RSS feed RSS

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

102 publications found

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

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

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

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

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

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

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

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

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

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

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

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 (in press)
DOI 10.1007/s00406-024-01944-3, PubMed 39729102

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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, 84 (10), 945-953
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

Gurholt TP, Elvsåshagen T, Bahrami S, Rahman Z, Shadrin A, Askeland-Gjerde DE, van der Meer D, Frei O, Kaufmann T, Sønderby IE, Halvorsen S, Westlye LT, Andreassen OA (2024)
Large-scale brainstem neuroimaging and genetic analyses provide new insights into the neuronal mechanisms of hypertension
HGG Adv, 6 (1), 100392
DOI 10.1016/j.xhgg.2024.100392, PubMed 39663699

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, 29 (4), 1128-1138
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

Hyldebrandt HK, Grindedal EM, Huppertz-Hauss G, Vitelli V, Johansen N, Stormorken AT (2024)
The impact of hysterectomy on subsequent colonoscopy in women with Lynch Syndrome
Scand J Gastroenterol, 59 (8), 1015-1020
DOI 10.1080/00365521.2024.2366969, PubMed 38946231

Hyldebrandt HK, Stormorken AT, Vitelli V, Mæhle L, Schlichting E, Grindedal EM (2024)
Risk reducing mastectomy in Norwegian BRCA1/2 carriers
Eur J Surg Oncol, 51 (3), 109571 (in press)
DOI 10.1016/j.ejso.2024.109571, PubMed 39765192

Inova A, Birkenæs V, Quintana DS, Ormerod MBEG, Ueland T, Ueland T, Djurovic S, Andreassen O, Steen NE, Aas M (2024)
Cortisol and C-reactive protein (CRP) regulation in severe mental disorders
Psychoneuroendocrinology, 172, 107272
DOI 10.1016/j.psyneuen.2024.107272, PubMed 39740359

Ivarsdottir EV, Gudmundsson J, Tragante V, Sveinbjornsson G, Kristmundsdottir S, Stacey SN, Halldorsson GH, Magnusson MI, Oddsson A, Walters GB, Sigurdsson A, Saevarsdottir S, Beyter D, Thorleifsson G, Halldorsson BV, Melsted P, Stefansson H, Jonsdottir I, Sørensen E, Pedersen OB, Erikstrup C, Bøgsted M, Pøhl M, Røder A, Stroomberg HV et al. (2024)
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes
Nat Genet, 56 (11), 2422-2433
DOI 10.1038/s41588-024-01966-6, PubMed 39472694

Jaholkowski P, Bahrami S, Fominykh V, Hindley GFL, Tesfaye M, Parekh P, Parker N, Filiz TT, Nordengen K, Hagen E, Koch E, Bakken NR, Frei E, Birkenæs V, Rahman Z, Frei O, Haavik J, Djurovic S, Dale AM, Smeland OB, O'Connell KS, Shadrin AA, Andreassen OA (2024)
Charting the shared genetic architecture of Alzheimer's disease, cognition, and educational attainment, and associations with brain development
Neurobiol Dis, 203, 106750
DOI 10.1016/j.nbd.2024.106750, PubMed 39608471

Jokiniitty A, Eskola M, Metso S, Bogsrud M, Huhtala H, Saarela T (2024)
Genetic testing for familial hypercholesterolemia in a Finnish cohort of patients with premature coronary artery disease and elevated LDL-C levels
Front Cardiovasc Med, 11, 1433042
DOI 10.3389/fcvm.2024.1433042, PubMed 39131706

Kalstø SM, Nygård S, Ariansen I, Tveit A, Christophersen IE (2024)
Sex differences in early-onset atrial fibrillation in Norwegian primary care: a retrospective national database analysis
Open Heart, 11 (2)
DOI 10.1136/openhrt-2024-002695, PubMed 39164045

Kany S, Jurgens SJ, Rämö JT, Christophersen IE, Rienstra M, Chung MK, Olesen MS, Ackerman MJ, McNally EM, Semsarian C, Schnabel RB, Wilde AAM, Benjamin EJ, Rehm HL, Kirchhof P, Bezzina CR, Roden DM, Shoemaker MB, Ellinor PT (2024)
Genetic testing in early-onset atrial fibrillation
Eur Heart J, 45 (34), 3111-3123
DOI 10.1093/eurheartj/ehae298, PubMed 39028637

Karadag N, Hagen E, Shadrin AA, van der Meer D, O'Connell KS, Rahman Z, Kutrolli G, Parker N, Bahrami S, Fominykh V, Heuser K, Taubøll E, Steen NE, Djurovic S, Dale AM, Frei O, Andreassen OA, Smeland OB (2024)
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology
Neurol Genet, 10 (3), e200143
DOI 10.1212/NXG.0000000000200143, PubMed 38817246

Karadag N, Hagen E, Shadrin AA, van der Meer D, O'Connell KS, Rahman Z, Kutrolli G, Parker N, Bahrami S, Fominykh V, Heuser K, Taubøll E, Ueland T, Steen NE, Djurovic S, Dale AM, Frei O, Andreassen OA, Smeland OB (2024)
Unraveling the shared genetics of common epilepsies and general cognitive ability
Seizure, 122, 105-112
DOI 10.1016/j.seizure.2024.09.016, PubMed 39388989

Kennelly SS, Hovland V, Matthews IL, Reinholt FP, Skjerven H, Heimdal K, Crowley S (2024)
Tracheobronchomalacia is common in children with primary ciliary dyskinesia-A case note review
Pediatr Pulmonol, 59 (12), 3560-3568
DOI 10.1002/ppul.27262, PubMed 39291788

Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santoni F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia RY, Terao C, Riggan MJ, Bolla MK, Yazdanpanah M et al. (2024)
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Nat Genet, 56 (7), 1397-1411
DOI 10.1038/s41588-024-01798-4, PubMed 38951643

Kijewski ACR, Witsø IL, Sundaram AYM, Brynildsrud OB, Pettersen K, Anonsen EB, Anonsen JH, Aspholm ME (2024)
Transcriptomic and proteomic analysis of the virulence inducing effect of ciprofloxacin on enterohemorrhagic Escherichia coli
PLoS One, 19 (5), e0298746
DOI 10.1371/journal.pone.0298746, PubMed 38787890

Kildal W, Cyll K, Kalsnes J, Islam R, Julbø FM, Pradhan M, Ersvær E, Shepherd N, Vlatkovic L, OSBREAC, Tekpli X, Garred Ø, Kristensen GB, Askautrud HA, Hveem TS, Danielsen HE, OSBREAC - Oslo Breast Cancer Consortium (2024)
Deep learning for automated scoring of immunohistochemically stained tumour tissue sections - Validation across tumour types based on patient outcomes
Heliyon, 10 (13), e32529
DOI 10.1016/j.heliyon.2024.e32529, PubMed 39040241

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, 49 (7), 1113-1119
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, 96 (7), 543-551
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

Kristensen E, Mathisen L, Berland S, Klingenberg C, Brodtkorb E, Rasmussen M, Tangeraas T, Bliksrud YT, Rahman S, Bindoff LA, Hikmat O (2024)
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Ann Clin Transl Neurol, 11 (7), 1819-1830
DOI 10.1002/acn3.52088, PubMed 38845467

Kristjansson D, Lee Y, Page CM, Gjessing H, Magnus MC, Jugessur A, Lyle R, Håberg SE (2024)
Sex differences in DNA methylation variations according to ART conception-evidence from the Norwegian mother, father, and child cohort study
Sci Rep, 14 (1), 22904
DOI 10.1038/s41598-024-73845-3, PubMed 39358554

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

Lenk HÇ, Koch E, O'Connell KS, Smith RL, Akkouh IA, Djurovic S, Andreassen OA, Molden E (2024)
Genome-wide association analysis of treatment resistant schizophrenia for variant discovery and polygenic assessment
Hum Genomics, 18 (1), 108
DOI 10.1186/s40246-024-00673-x, PubMed 39334510

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, 22 (6), 1569-1582
DOI 10.1016/j.jtha.2024.02.008, PubMed 38382738

Liu Y, Peng C, Brorson IS, O'Mahony DG, Kelly RL, Heng YJ, Baker GM, Grenaker Alnæs GI, Bodelon C, Stover DG, Van Allen EM, Eliassen AH, Kristensen VN, Tamimi RM, Kraft P (2024)
Germline polygenic risk scores are associated with immune gene expression signature and immune cell infiltration in breast cancer
Am J Hum Genet, 111 (10), 2150-2163
DOI 10.1016/j.ajhg.2024.08.009, PubMed 39270649

Maji S, Jordan G, Bansod S, Upadhyay A, Deevela D, Biswas S (2024)
Student Suicide in India: An Analysis of Newspaper Articles (2019-2023)
Early Interv Psychiatry, 19 (1), e13616
DOI 10.1111/eip.13616, PubMed 39380363

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
DOI 10.1016/j.atherosclerosis.2024.117507, PubMed 38663317

Mero IL, Orozco Rodriguez JM, Bjørgo K, Hankin RA, Krupinska E, Kulseth MA, Rossow MA, Knecht W (2024)
A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase
Heliyon, 10 (19), e38659
DOI 10.1016/j.heliyon.2024.e38659, PubMed 39430512

Misceo D, Strømme P, Bitarafan F, Chawla MS, Sheng Y, Bach de Courtade SM, Eide L, Frengen E (2024)
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
Genes (Basel), 15 (4)
DOI 10.3390/genes15040500, PubMed 38674434

Mlakar V, Akkouh I, Halff EF, Srivastava DP, Birkenæs V, Ueland T, Quintana DS, Ormerod MBEG, Steen NE, Djurovic S, Andreassen OA, Aas M (2024)
Telomere biology and its maintenance in schizophrenia spectrum disorders: Exploring links to cognition
Schizophr Res, 272, 89-95
DOI 10.1016/j.schres.2024.08.011, PubMed 39208769

Mäki-Marttunen T, Blackwell KT, Akkouh I, Shadrin A, Valstad M, Elvsåshagen T, Linne ML, Djurovic S, Einevoll GT, Andreassen OA (2024)
Genetic mechanisms for impaired synaptic plasticity in schizophrenia revealed by computational modeling
Proc Natl Acad Sci U S A, 121 (34), e2312511121
DOI 10.1073/pnas.2312511121, PubMed 39141354

Narod SA, Gronwald J, Karlan B, Moller P, Huzarski T, Tung N, Aeilts A, Eisen A, Armel SR, Singer CF, Foulkes WD, Neuhausen SL, Olopade O, Pal T, Fruscio R, Metcalfe K, Raj R, Jacobson M, Sun P, Lubinski J, Kotsopoulos J (2024)
Incidence of peritoneal cancer after oophorectomy among BRCA1 and BRCA2 mutation carriers
J Natl Cancer Inst, 116 (11), 1753-1760
DOI 10.1093/jnci/djae151, PubMed 38937272

Ndoj K, Meurs A, Papaioannou D, Bjune K, Zelcer N (2024)
The low-density lipoprotein receptor: Emerging post-transcriptional regulatory mechanisms
Atherosclerosis, 401, 119082
DOI 10.1016/j.atherosclerosis.2024.119082, PubMed 39700747

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, Launay T, Barzaghi G, Nikumbh S, Lenhard B, Krebs AR, Castro-Mondragon JA, Mathelier A (2024)
Identification of transcription factor co-binding patterns with non-negative matrix factorization
Nucleic Acids Res, 52 (18), e85
DOI 10.1093/nar/gkae743, PubMed 39217462

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

Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M, Vikkula M (2024)
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Orphanet J Rare Dis, 19 (1), 213
DOI 10.1186/s13023-024-03196-9, PubMed 38778413

Rostami S, Rounge TB, Pestarino L, Lyle R, Fortner RT, Haaland ØA, Lie RT, Wiklund F, Bjørge T, Langseth H (2024)
Differential levels of circulating RNAs prior to endometrial cancer diagnosis
Int J Cancer, 155 (5), 946-956
DOI 10.1002/ijc.34951, PubMed 38733362

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

Schmiester L, Brasó-Maristany F, González-Farré B, Pascual T, Gavilá J, Tekpli X, Geisler J, Kristensen VN, Frigessi A, Prat A, Köhn-Luque A (2024)
Computational Model Predicts Patient Outcomes in Luminal B Breast Cancer Treated with Endocrine Therapy and CDK4/6 Inhibition
Clin Cancer Res, 30 (17), 3779-3787
DOI 10.1158/1078-0432.CCR-24-0244, PubMed 38922642

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

Shahrouzi P, Azimzade Y, Brankiewicz-Kopcinska W, Bhatia S, Kunke D, Richard D, Tekpli X, Kristensen VN, Duijf PHG (2024)
Loss of chromosome cytoband 13q14.2 orchestrates breast cancer pathogenesis and drug response
Breast Cancer Res, 26 (1), 170
DOI 10.1186/s13058-024-01924-4, PubMed 39605038

Shahrouzi P, Forouz F, Mathelier A, Kristensen VN, Duijf PHG (2024)
Copy number alterations: a catastrophic orchestration of the breast cancer genome
Trends Mol Med, 30 (8), 750-764
DOI 10.1016/j.molmed.2024.04.017, PubMed 38772764

Shultes PV, Weaver DT, Tadele DS, Barker-Clarke RJ, Scott JG (2024)
Cell-cell fusion in cancer: The next cancer hallmark?
Int J Biochem Cell Biol, 175, 106649
DOI 10.1016/j.biocel.2024.106649, PubMed 39186970

Sjursen W, Hyldebrandt HK, Lavik LAS, Haukanes BI, Ariansen S, Briskemyr S, Sylvander AE, Haavind MT, Olsen MF, Røyset ES, Vetti H, Stormorken A, Grindedal EM (2024)
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants
Hered Cancer Clin Pract, 22 (1), 20
DOI 10.1186/s13053-024-00292-6, PubMed 39334433

Sletten M, Skogstrøm KB, Lind SM, Tinholt M, Stavik B, Rayner S, Iversen N (2024)
Elevated TFPI is a prognostic factor in hepatocellular carcinoma: Putative role of miR-7-5p and miR-1236-3p
Thromb Res, 241, 109073
DOI 10.1016/j.thromres.2024.109073, PubMed 38945092

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

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

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

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

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

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

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

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

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

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

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

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

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, 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

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

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, de Gonzalez AB, 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

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

0.19s