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Publications (original articles or review articles) published in 2023 from OUS - Department of Medical Genetics

53 publications found

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

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

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

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

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

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

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 (in press)
DOI 10.1007/s00428-023-03541-6, PubMed 37067588

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 (in press)
DOI 10.1016/j.scitotenv.2023.163599, PubMed 37100150

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

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

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 (in press)
DOI 10.1093/nar/gkad375, PubMed 37166953

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

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

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

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

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

Hovland HN, Mchaina EK, Høberg-Vetti H, Ariansen SL, Sjursen W, Van Ghelue M, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E (2023)
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions
Genes (Basel), 14 (2)
DOI 10.3390/genes14020262, PubMed 36833189

Izquierdo-Lara RW, Heijnen L, Oude Munnink BB, Schapendonk CME, Elsinga G, Langeveld J, Post J, Prasad DK, Carrizosa C, Been F, van Beek J, Schilperoort R, Vriend R, Fanoy E, de Schepper EIT, Sikkema RS, Molenkamp R, Aarestrup FM, Medema G, Koopmans MPG, de Graaf M (2023)
Rise and fall of SARS-CoV-2 variants in Rotterdam: Comparison of wastewater and clinical surveillance
Sci Total Environ, 873, 162209
DOI 10.1016/j.scitotenv.2023.162209, PubMed 36796689

Jaholkowski P, Hindley GFL, Shadrin AA, Tesfaye M, Bahrami S, Nerhus M, Rahman Z, O'Connell KS, Holen B, Parker N, Cheng W, Lin A, Rødevand L, Karadag N, Frei O, Djurovic S, Dale AM, Smeland OB, Andreassen OA (2023)
Genome-wide Association Analysis of Schizophrenia and Vitamin D Levels Shows Shared Genetic Architecture and Identifies Novel Risk Loci
Schizophr Bull (in press)
DOI 10.1093/schbul/sbad063, PubMed 37163672

Jaholkowski P, Shadrin AA, Jangmo A, Frei E, Tesfaye M, Hindley GFL, Haram M, Rahman Z, Athanasiu L, Bakken NR, Holen B, Fominykh V, Kutrolli G, Parekh P, Parker N, Rødevand L, Birkenæs V, Djurovic S, Frei O, O'Connell KS, Smeland OB, Tesli M, Andreassen OA (2023)
Associations Between Symptoms of Premenstrual Disorders and Polygenic Liability for Major Psychiatric Disorders
JAMA Psychiatry (in press)
DOI 10.1001/jamapsychiatry.2023.1137, PubMed 37163253

Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E (2023)
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
Epilepsy Res, 190, 107099
DOI 10.1016/j.eplepsyres.2023.107099, PubMed 36731270

Jensen SB, Sheikh MA, Akkouh IA, Szabo A, O'Connell KS, Lekva T, Engh JA, Agartz I, Elvsåshagen T, Ormerod MBEG, Weibell MA, Johnsen E, Kroken RA, Melle I, Drange OK, Nærland T, Vaaler AE, Westlye LT, Aukrust P, Djurovic S, Eiel Steen N, Andreassen OA, Ueland T (2023)
Elevated Systemic Levels of Markers Reflecting Intestinal Barrier Dysfunction and Inflammasome Activation Are Correlated in Severe Mental Illness
Schizophr Bull, 49 (3), 635-645
DOI 10.1093/schbul/sbac191, PubMed 36462169

Jiang X, Liu S, Fu YR, Liu XJ, Li XJ, Yang B, Jiang HF, Shen ZZ, Alemu EA, Vazquez P, Tang Y, Kaarbø M, McVoy MA, Rayner S, Luo MH (2023)
Human cytomegalovirus infection perturbs neural progenitor cell fate via the expression of viral microRNAs
J Med Virol, 95 (2), e28574
DOI 10.1002/jmv.28574, PubMed 36772841

Karadag N, Shadrin AA, O'Connell K, Hindley GFL, Rahman Z, Parker N, Bahrami S, Fominykh V, Cheng W, Holen B, Alvestad S, Taubøll E, Steen NE, Djurovic S, Dale AM, Frei O, Andreassen OA, Smeland OB (2023)
Identification of novel genomic risk loci shared between common epilepsies and psychiatric disorders
Brain (in press)
DOI 10.1093/brain/awad038, PubMed 36757824

Kopal J, Kumar K, Saltoun K, Modenato C, Moreau CA, Martin-Brevet S, Huguet G, Jean-Louis M, Martin CO, Saci Z, Younis N, Tamer P, Douard E, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Draganski B et al. (2023)
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence
Nat Hum Behav (in press)
DOI 10.1038/s41562-023-01541-9, PubMed 36864136

Lazado CC, Iversen M, Sundaram AYM (2023)
Comparative basal transcriptome profiles of the olfactory rosette and gills of Atlantic salmon (Salmo salar) unveil shared and distinct immunological features
Genomics, 115 (3), 110632
DOI 10.1016/j.ygeno.2023.110632, PubMed 37127252

Levy-Jurgenson A, Tekpli X, Kristensen VN, Yakhini Z (2023)
Analysis of Spatial Molecular Data
Methods Mol Biol, 2614, 349-356
DOI 10.1007/978-1-0716-2914-7_20, PubMed 36587134

Løseth S, Høyer H, Le KM, Delpire E, Kinge E, Lande A, Hilmarsen HT, Fagerheim T, Nilssen Ø, Braathen GJ (2023)
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype
Brain, 146 (3), 912-922
DOI 10.1093/brain/awac488, PubMed 36542484

Misceo D, Lirussi L, Strømme P, Sumathipala D, Guerin A, Wolf NI, Server A, Stensland M, Dalhus B, Tolun A, Kroes HY, Nyman TA, Nilsen HL, Frengen E (2023)
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
Brain (in press)
DOI 10.1093/brain/awad086, PubMed 36917474

Morra A, Mavaddat N, Muranen TA, Ahearn TU, Allen J, Andrulis IL, Auvinen P, Becher H, Behrens S, Blomqvist C, Bojesen SE, Bolla MK, Brauch H, Camp NJ, Carvalho S, Castelao JE, Cessna MH, Chang-Claude J, Chenevix-Trench G, NBCS Collaborators, Czene K, Decker B, Dennis J, Dörk T, Dorling L et al. (2023)
The impact of coding germline variants on contralateral breast cancer risk and survival
Am J Hum Genet, 110 (3), 475-486
DOI 10.1016/j.ajhg.2023.02.003, PubMed 36827971

Mueller SH, Lai AG, Valkovskaya M, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Abu-Ful Z, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baert T, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE et al. (2023)
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Genome Med, 15 (1), 7
DOI 10.1186/s13073-022-01152-5, PubMed 36703164

Muranen TA, Morra A, Khan S, Barnes DR, Bolla MK, Dennis J, Keeman R, Leslie G, Parsons MT, Wang Q, Ahearn TU, Aittomäki K, Andrulis IL, Arun BK, Behrens S, Bialkowska K, Bojesen SE, Camp NJ, Chang-Claude J, Czene K, Devilee P, HEBON investigators, Domchek SM, Dunning AM, Engel C et al. (2023)
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants
NPJ Breast Cancer, 9 (1), 37
DOI 10.1038/s41523-023-00546-x, PubMed 37173335

Normann LS, Haugen MH, Hongisto V, Aure MR, Leivonen SK, Kristensen VN, Tahiri A, Engebraaten O, Sahlberg KK, Mælandsmo GM (2023)
High-throughput screen in vitro identifies dasatinib as a candidate for combinatorial treatment with HER2-targeting drugs in breast cancer
PLoS One, 18 (1), e0280507
DOI 10.1371/journal.pone.0280507, PubMed 36706086

O'Connell KS, Koch E, Lenk HÇ, Akkouh IA, Hindley G, Jaholkowski P, Smith RL, Holen B, Shadrin AA, Frei O, Smeland OB, Steen NE, Dale AM, Molden E, Djurovic S, Andreassen OA (2023)
Polygenic overlap with body-mass index improves prediction of treatment-resistant schizophrenia
Psychiatry Res, 325, 115217 (in press)
DOI 10.1016/j.psychres.2023.115217, PubMed 37146461

Olstad EW, Nordeng HME, Sandve GK, Lyle R, Gervin K (2023)
Effects of prenatal exposure to (es)citalopram and maternal depression during pregnancy on DNA methylation and child neurodevelopment
Transl Psychiatry, 13 (1), 149
DOI 10.1038/s41398-023-02441-2, PubMed 37147306

Osete JR, Akkouh IA, Ievglevskyi O, Vandenberghe M, de Assis DR, Ueland T, Kondratskaya E, Holen B, Szabo A, Hughes T, Smeland OB, Steen VM, Andreassen OA, Djurovic S (2023)
Transcriptional and functional effects of lithium in bipolar disorder iPSC-derived cortical spheroids
Mol Psychiatry (in press)
DOI 10.1038/s41380-023-01944-0, PubMed 36653674

Pedersen S, Kverneland M, Rudi K, Gervin K, Landmark CJ, Iversen PO, Selmer KK (2023)
Decreased serum concentrations of antiseizure medications in children with drug resistant epilepsy following treatment with ketogenic diet
Epilepsia Open (in press)
DOI 10.1002/epi4.12746, PubMed 37057954

Rashidieh B, Bain AL, Tria SM, Sharma S, Stewart CA, Simmons JL, Apaja PM, Duijf PHG, Finnie J, Khanna KK (2023)
Alpha-B-Crystallin overexpression is sufficient to promote tumorigenesis and metastasis in mice
Exp Hematol Oncol, 12 (1), 4
DOI 10.1186/s40164-022-00365-z, PubMed 36624493

Roht L, Hyldebrandt HK, Stormorken AT, Nordgarden H, Sijmons RH, Bos DK, Riegert-Johnson D, Mantia-Macklin S, Ilves P, Muru K, Wojcik MH, Kahre T, Õunap K (2023)
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature
Mol Genet Genomic Med, e2157 (in press)
DOI 10.1002/mgg3.2157, PubMed 36860143

Romanowska J, Nustad HE, Page CM, Denault WRP, Lee Y, Magnus MC, Haftorn KL, Gjerdevik M, Novakovic B, Saffery R, Gjessing HK, Lyle R, Magnus P, Håberg SE, Jugessur A (2023)
The X-factor in ART: does the use of assisted reproductive technologies influence DNA methylation on the X chromosome?
Hum Genomics, 17 (1), 35
DOI 10.1186/s40246-023-00484-6, PubMed 37085889

Rosa ME, Campos L, Borges BT, Santos S, Barreto YC, de Assis DR, Hyslop S, de Souza VQ, Vinadé L, Dal Belo CA (2023)
Fipronil affects cockroach behavior and olfactory memory
J Exp Biol, 226 (8)
DOI 10.1242/jeb.245239, PubMed 36970762

Rydland A, Heinicke F, Flåm ST, Mjaavatten MD, Lie BA (2023)
Small extracellular vesicles have distinct CD81 and CD9 tetraspanin expression profiles in plasma from rheumatoid arthritis patients
Clin Exp Med (in press)
DOI 10.1007/s10238-023-01024-1, PubMed 36826611

Schreuder MM, Hamkour S, Siegers KE, Holven KB, Johansen AK, van de Ree MA, Imholz B, Boersma E, Louters L, Bogsrud MP, Retterstøl K, Visseren FLJ, Roeters van Lennep JE, Koopal C (2023)
LDL cholesterol targets rarely achieved in familial hypercholesterolemia patients: A sex and gender-specific analysis
Atherosclerosis (in press)
DOI 10.1016/j.atherosclerosis.2023.03.022, PubMed 37080805

Steen CB, Luca BA, Alizadeh AA, Gentles AJ, Newman AM (2023)
Profiling Cellular Ecosystems at Single-Cell Resolution and at Scale with EcoTyper
Methods Mol Biol, 2629, 43-71
DOI 10.1007/978-1-0716-2986-4_4, PubMed 36929073

Torsvik A, Brattbakk HR, Trentani A, Holdhus R, Stansberg C, Bartz-Johannessen CA, Hughes T, Steen NE, Melle I, Djurovic S, Andreassen OA, Steen VM (2023)
Patients with schizophrenia and bipolar disorder display a similar global gene expression signature in whole blood that reflects elevated proportion of immature neutrophil cells with association to lipid changes
Transl Psychiatry, 13 (1), 147
DOI 10.1038/s41398-023-02442-1, PubMed 37147304

Tsagakis I, Rayner S (2023)
An open chat with…Simon Rayner
FEBS Open Bio, 13 (2), 214-216
DOI 10.1002/2211-5463.13543, PubMed 36562681

Vahid MR, Brown EL, Steen CB, Zhang W, Jeon HS, Kang M, Gentles AJ, Newman AM (2023)
High-resolution alignment of single-cell and spatial transcriptomes with CytoSPACE
Nat Biotechnol (in press)
DOI 10.1038/s41587-023-01697-9, PubMed 36879008

Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S, Genomics England Research Consortium, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A et al. (2023)
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Hum Mol Genet, 32 (4), 580-594
DOI 10.1093/hmg/ddac225, PubMed 36067010

Vigeland MD (2023)
Two-locus identity coefficients in pedigrees
G3 (Bethesda), 13 (2)
DOI 10.1093/g3journal/jkac326, PubMed 36525359

Viste R, Follin LF, Kornum BR, Lie BA, Viken MK, Thorsby PM, Rootwelt T, Christensen JAE, Knudsen-Heier S (2023)
Increased muscle activity during sleep and more RBD symptoms in H1N1-(Pandemrix)-vaccinated narcolepsy type 1 patients compared with their non-narcoleptic siblings
Sleep, 46 (3)
DOI 10.1093/sleep/zsac316, PubMed 36562330

Vitelli V, Fleischer T, Ankill J, Arjas E, Frigessi A, Kristensen VN, Zucknick M (2023)
Transcriptomic pan-cancer analysis using rank-based Bayesian inference
Mol Oncol, 17 (4), 548-563
DOI 10.1002/1878-0261.13354, PubMed 36562628

Wen L, Wang XZ, Qiu Y, Zhou YP, Zhang QY, Cheng S, Sun JY, Jiang XJ, Rayner S, Britt WJ, Chen J, Hu F, Li FC, Luo MH, Cheng H (2023)
SOX2 downregulation of PML increases HCMV gene expression and growth of glioma cells
PLoS Pathog, 19 (4), e1011316
DOI 10.1371/journal.ppat.1011316, PubMed 37058447

Øyri LKL, Christensen JJ, Sebert S, Thoresen M, Michelsen TM, Ulven SM, Brekke HK, Retterstøl K, Brantsæter AL, Magnus P, Bogsrud MP, Holven KB (2023)
Maternal prenatal cholesterol levels predict offspring weight trajectories during childhood in the Norwegian Mother, Father and Child Cohort Study
BMC Med, 21 (1), 43
DOI 10.1186/s12916-023-02742-9, PubMed 36747215