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Publications (original articles or review articles) published in 2022 from OUS - Department of Medical Genetics

99 publications found

Absalom NL, Liao VWY, Johannesen KMH, Gardella E, Jacobs J, Lesca G, Gokce-Samar Z, Arzimanoglou A, Zeidler S, Striano P, Meyer P, Benkel-Herrenbrueck I, Mero IL, Rummel J, Chebib M, Møller RS, Ahring PK (2022)
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
Nat Commun, 13 (1), 1822
DOI 10.1038/s41467-022-29280-x, PubMed 35383156

Ahearn TU, Zhang H, Michailidou K, Milne RL, Bolla MK, Dennis J, Dunning AM, Lush M, Wang Q, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Augustinsson A, Baten A, Becher H, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H et al. (2022)
Common variants in breast cancer risk loci predispose to distinct tumor subtypes
Breast Cancer Res, 24 (1), 2
DOI 10.1186/s13058-021-01484-x, PubMed 34983606

Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS (2022)
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
Brain, 145 (4), 1299-1309
DOI 10.1093/brain/awab391, PubMed 34633442

Akkouh IA, Hribkova H, Grabiec M, Budinska E, Szabo A, Kasparek T, Andreassen OA, Sun YM, Djurovic S (2022)
Derivation and Molecular Characterization of a Morphological Subpopulation of Human iPSC Astrocytes Reveal a Potential Role in Schizophrenia and Clozapine Response
Schizophr Bull, 48 (1), 190-198
DOI 10.1093/schbul/sbab092, PubMed 34357384

Bahrami S, Hindley G, Winsvold BS, O'Connell KS, Frei O, Shadrin A, Cheng W, Bettella F, Rødevand L, Odegaard KJ, Fan CC, Pirinen MJ, Hautakangas HM, HUNT All-In Headache, Dale AM, Djurovic S, Smeland OB, Andreassen OA (2022)
Dissecting the shared genetic basis of migraine and mental disorders using novel statistical tools
Brain, 145 (1), 142-153
DOI 10.1093/brain/awab267, PubMed 34273149

Balakittnen J, Weeramange CE, Wallace DF, Duijf PHG, Cristino AS, Kenny L, Vasani S, Punyadeera C (2022)
Noncoding RNAs in oral cancer
Wiley Interdiscip Rev RNA, 14 (3), e1754
DOI 10.1002/wrna.1754, PubMed 35959932

Bjørklund SS, Aure MR, Häkkinen J, Vallon-Christersson J, Kumar S, Evensen KB, Fleischer T, Tost J, OSBREAC, Sahlberg KK, Mathelier A, Bhanot G, Ganesan S, Tekpli X, Kristensen VN (2022)
Subtype and cell type specific expression of lncRNAs provide insight into breast cancer
Commun Biol, 5 (1), 834
DOI 10.1038/s42003-022-03559-7, PubMed 35982125

Boen R, Raud L, Huster RJ (2022)
Inhibitory Control and the Structural Parcelation of the Right Inferior Frontal Gyrus
Front Hum Neurosci, 16, 787079
DOI 10.3389/fnhum.2022.787079, PubMed 35280211

Breast Cancer Association Consortium, Mavaddat N, Dorling L, Carvalho S, Allen J, González-Neira A, Keeman R, Bolla MK, Dennis J, Wang Q, Ahearn TU, Andrulis IL, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Briceno I, Brüning T, Camp NJ, Campbell A, Castelao JE, Chang-Claude J et al. (2022)
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
JAMA Oncol, 8 (3), e216744
DOI 10.1001/jamaoncol.2021.6744, PubMed 35084436

Castro-Mondragon JA, Aure MR, Lingjærde OC, Langerød A, Martens JWM, Børresen-Dale AL, Kristensen VN, Mathelier A (2022)
Cis-regulatory mutations associate with transcriptional and post-transcriptional deregulation of gene regulatory programs in cancers
Nucleic Acids Res, 50 (21), 12131-12148
DOI 10.1093/nar/gkac1143, PubMed 36477895

Castro-Mondragon JA, Riudavets-Puig R, Rauluseviciute I, Lemma RB, Turchi L, Blanc-Mathieu R, Lucas J, Boddie P, Khan A, Manosalva Pérez N, Fornes O, Leung TY, Aguirre A, Hammal F, Schmelter D, Baranasic D, Ballester B, Sandelin A, Lenhard B, Vandepoele K, Wasserman WW, Parcy F, Mathelier A (2022)
JASPAR 2022: the 9th release of the open-access database of transcription factor binding profiles
Nucleic Acids Res, 50 (D1), D165-D173
DOI 10.1093/nar/gkab1113, PubMed 34850907

Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C et al. (2022)
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
J Med Genet, 60 (6), 620-626
DOI 10.1136/jmg-2022-108678, PubMed 36368868

Chen H, Fan S, Stone J, Thompson DJ, Douglas J, Li S, Scott C, Bolla MK, Wang Q, Dennis J, Michailidou K, Li C, Peters U, Hopper JL, Southey MC, Nguyen-Dumont T, Nguyen TL, Fasching PA, Behrens A, Cadby G, Murphy RA, Aronson K, Howell A, Astley S, Couch F et al. (2022)
Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci
Breast Cancer Res, 24 (1), 27
DOI 10.1186/s13058-022-01524-0, PubMed 35414113

Cheng W, van der Meer D, Parker N, Hindley G, O'Connell KS, Wang Y, Shadrin AA, Alnæs D, Bahrami S, Lin A, Karadag N, Holen B, Fernandez-Cabello S, Fan CC, Dale AM, Djurovic S, Westlye LT, Frei O, Smeland OB, Andreassen OA (2022)
Shared genetic architecture between schizophrenia and subcortical brain volumes implicates early neurodevelopmental processes and brain development in childhood
Mol Psychiatry, 27 (12), 5167-5176
DOI 10.1038/s41380-022-01751-z, PubMed 36100668

Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D et al. (2022)
DNA methylation episignature in Gabriele-de Vries syndrome
Genet Med, 24 (4), 905-914
DOI 10.1016/j.gim.2021.12.003, PubMed 35027293

de la Morena-Barrio ME, Suchon P, Jacobsen EM, Iversen N, Miñano A, de la Morena-Barrio B, Bravo-Pérez C, Padilla J, Cifuentes R, Asenjo S, Deleuze JF, Trégouët DA, Lozano ML, Vicente V, Sandset PM, Morange PE, Corral J (2022)
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays
Blood, 140 (2), 140-151
DOI 10.1182/blood.2021014708, PubMed 35486842

Dennis J, Tyrer JP, Walker LC, Michailidou K, Dorling L, Bolla MK, Wang Q, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brenner H, Castelao JE, Chang-Claude J, Chenevix-Trench G, Clarke CL et al. (2022)
Rare germline copy number variants (CNVs) and breast cancer risk
Commun Biol, 5 (1), 65
DOI 10.1038/s42003-021-02990-6, PubMed 35042965

Diaz-Lundahl S, Sundaram AYM, Gillund P, Gilfillan GD, Olsaker I, Krogenæs A (2022)
Gene Expression in Embryos From Norwegian Red Bulls With High or Low Non Return Rate: An RNA-Seq Study of in vivo-Produced Single Embryos
Front Genet, 12, 780113
DOI 10.3389/fgene.2021.780113, PubMed 35096004

Dixon-Suen SC, Lewis SJ, Martin RM, English DR, Boyle T, Giles GG, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Investigators A, Ahearn TU, Ambrosone CB, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Auvinen P, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Bermisheva M et al. (2022)
Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study
Br J Sports Med, 56 (20), 1157-1170
DOI 10.1136/bjsports-2021-105132, PubMed 36328784

Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, González-Neira A, Heijl SM, Adank MA, Ahearn TU, Andrulis IL, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bremer M, Briceno I, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ et al. (2022)
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Genome Med, 14 (1), 51
DOI 10.1186/s13073-022-01052-8, PubMed 35585550

Elkjaer Greenwood Ormerod MB, Ueland T, Frogner Werner MC, Hjell G, Rødevand L, Sæther LS, Lunding SH, Johansen IT, Ueland T, Lagerberg TV, Melle I, Djurovic S, Andreassen OA, Steen NE (2022)
Composite immune marker scores associated with severe mental disorders and illness course
Brain Behav Immun Health, 24, 100483
DOI 10.1016/j.bbih.2022.100483, PubMed 35856063

Engh JA, Ueland T, Agartz I, Andreou D, Aukrust P, Boye B, Bøen E, Drange OK, Elvsåshagen T, Hope S, Høegh MC, Joa I, Johnsen E, Kroken RA, Lagerberg TV, Lekva T, Malt UF, Melle I, Morken G, Nærland T, Steen VM, Wedervang-Resell K, Weibell MA, Westlye LT, Djurovic S et al. (2022)
Plasma Levels of the Cytokines B Cell-Activating Factor (BAFF) and A Proliferation-Inducing Ligand (APRIL) in Schizophrenia, Bipolar, and Major Depressive Disorder: A Cross Sectional, Multisite Study
Schizophr Bull, 48 (1), 37-46
DOI 10.1093/schbul/sbab106, PubMed 34499169

Goris A, Vandebergh M, McCauley JL, Saarela J, Cotsapas C (2022)
Genetics of multiple sclerosis: lessons from polygenicity
Lancet Neurol, 21 (9), 830-842
DOI 10.1016/S1474-4422(22)00255-1, PubMed 35963264

Granerud G, Elvsåshagen T, Arntzen E, Juhasz K, Emilsen NM, Sønderby IE, Nærland T, Malt EA (2022)
A family study of symbolic learning and synaptic plasticity in autism spectrum disorder
Front Hum Neurosci, 16, 950922
DOI 10.3389/fnhum.2022.950922, PubMed 36504626

Grimholt U, Sundaram AYM, Bøe CA, Dahle MK, Lukacs M (2022)
Tetraploid Ancestry Provided Atlantic Salmon With Two Paralogue Functional T Cell Receptor Beta Regions Whereof One Is Completely Novel
Front Immunol, 13, 930312
DOI 10.3389/fimmu.2022.930312, PubMed 35784332

Grootes I, Keeman R, Blows FM, Milne RL, Giles GG, Swerdlow AJ, Fasching PA, Abubakar M, Andrulis IL, Anton-Culver H, Beckmann MW, Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Briceno I, Burwinkel B, Camp NJ, Castelao JE, Choi JY, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K et al. (2022)
Incorporating progesterone receptor expression into the PREDICT breast prognostic model
Eur J Cancer, 173, 178-193
DOI 10.1016/j.ejca.2022.06.011, PubMed 35933885

Hajdarevic R, Lande A, Mehlsen J, Rydland A, Sosa DD, Strand EB, Mella O, Pociot F, Fluge Ø, Lie BA, Viken MK (2022)
Genetic association study in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) identifies several potential risk loci
Brain Behav Immun, 102, 362-369
DOI 10.1016/j.bbi.2022.03.010, PubMed 35318112

Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K et al. (2022)
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
Am J Med Genet A, 188 (10), 2958-2968
DOI 10.1002/ajmg.a.62919, PubMed 35904974

Harrison GF, Leaton LA, Harrison EA, Kichula KM, Viken MK, Shortt J, Gignoux CR, Lie BA, Vukcevic D, Leslie S, Norman PJ (2022)
Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1
PLoS Comput Biol, 18 (2), e1009059
DOI 10.1371/journal.pcbi.1009059, PubMed 35192601

Hellstrøm T, Andelic N, Holthe ØØ, Helseth E, Server A, Eiklid K, Sigurdardottir S (2022)
APOE-ε4 Is Associated With Reduced Verbal Memory Performance and Higher Emotional, Cognitive, and Everyday Executive Function Symptoms Two Months After Mild Traumatic Brain Injury
Front Neurol, 13, 735206
DOI 10.3389/fneur.2022.735206, PubMed 35250800

Hindley G, Frei O, Shadrin AA, Cheng W, O'Connell KS, Icick R, Parker N, Bahrami S, Karadag N, Roelfs D, Holen B, Lin A, Fan CC, Djurovic S, Dale AM, Smeland OB, Andreassen OA (2022)
Charting the Landscape of Genetic Overlap Between Mental Disorders and Related Traits Beyond Genetic Correlation
Am J Psychiatry, 179 (11), 833-843
DOI 10.1176/appi.ajp.21101051, PubMed 36069018

Hindley G, O'Connell KS, Rahman Z, Frei O, Bahrami S, Shadrin A, Høegh MC, Cheng W, Karadag N, Lin A, Rødevand L, Fan CC, Djurovic S, Lagerberg TV, Dale AM, Smeland OB, Andreassen OA (2022)
The shared genetic basis of mood instability and psychiatric disorders: A cross-trait genome-wide association analysis
Am J Med Genet B Neuropsychiatr Genet, 189 (6), 207-218
DOI 10.1002/ajmg.b.32907, PubMed 35841185

Hjell G, Szabo A, Mørch-Johnsen L, Holst R, Tesli N, Bell C, Fischer-Vieler T, Werner MCF, Lunding SH, Ormerod MBEG, Johansen IT, Dieset I, Djurovic S, Melle I, Ueland T, Andreassen OA, Steen NE, Haukvik UK (2022)
Interleukin-18 signaling system links to agitation in severe mental disorders
Psychoneuroendocrinology, 140, 105721
DOI 10.1016/j.psyneuen.2022.105721, PubMed 35301151

Holmgren A, Hansson L, Bjerkaas-Kjeldal K, Impellizzeri AAR, Gilfillan GD, Djurovic S, Hughes T (2022)
Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain
Transl Psychiatry, 12 (1), 45
DOI 10.1038/s41398-022-01784-6, PubMed 35091539

Hovland A, Mundal LJ, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2022)
The risk of various types of cardiovascular diseases in mutation positive familial hypercholesterolemia; a review
Front Genet, 13, 1072108
DOI 10.3389/fgene.2022.1072108, PubMed 36561318

Hovland HN, Al-Adhami R, Ariansen SL, Van Ghelue M, Sjursen W, Lima S, Bolstad M, Berger AH, Høberg-Vetti H, Knappskog P, Haukanes BI, Aukrust I, Ognedal E (2022)
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories
Fam Cancer, 21 (4), 389-398
DOI 10.1007/s10689-021-00286-6, PubMed 34981296

Huynh-Le MP, Karunamuni R, Fan CC, Asona L, Thompson WK, Martinez ME, Eeles RA, Kote-Jarai Z, Muir KR, Lophatananon A, Schleutker J, Pashayan N, Batra J, Grönberg H, Neal DE, Nordestgaard BG, Tangen CM, MacInnis RJ, Wolk A, Albanes D, Haiman CA, Travis RC, Blot WJ, Stanford JL, Mucci LA et al. (2022)
Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score
Prostate Cancer Prostatic Dis, 25 (4), 755-761
DOI 10.1038/s41391-022-00497-7, PubMed 35152271

Høyer H, Busk ØL, Esbensen QY, Røsby O, Hilmarsen HT, Russell MB, Nyman TA, Braathen GJ, Nilsen HL (2022)
Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation
BMC Neurol, 22 (1), 299
DOI 10.1186/s12883-022-02828-6, PubMed 35971119

Håberg SE, Page CM, Lee Y, Nustad HE, Magnus MC, Haftorn KL, Carlsen EØ, Denault WRP, Bohlin J, Jugessur A, Magnus P, Gjessing HK, Lyle R (2022)
DNA methylation in newborns conceived by assisted reproductive technology
Nat Commun, 13 (1), 1896
DOI 10.1038/s41467-022-29540-w, PubMed 35393427

Icick R, Shadrin A, Holen B, Karadag N, Lin A, Hindley G, O'Connell K, Frei O, Bahrami S, Høegh MC, Cheng W, Fan CC, Djurovic S, Dale AM, Lagerberg TV, Smeland OB, Andreassen OA (2022)
Genetic overlap between mood instability and alcohol-related phenotypes suggests shared biological underpinnings
Neuropsychopharmacology, 47 (11), 1883-1891
DOI 10.1038/s41386-022-01401-6, PubMed 35953530

Jansen IE, van der Lee SJ, Gomez-Fonseca D, de Rojas I, Dalmasso MC, Grenier-Boley B, Zettergren A, Mishra A, Ali M, Andrade V, Bellenguez C, Kleineidam L, Küçükali F, Sung YJ, Tesí N, Vromen EM, Wightman DP, Alcolea D, Alegret M, Alvarez I, Amouyel P, Athanasiu L, Bahrami S, Bailly H, Belbin O et al. (2022)
Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers
Acta Neuropathol, 144 (5), 821-842
DOI 10.1007/s00401-022-02454-z, PubMed 36066633

Kallak TK, Fransson E, Bränn E, Berglund H, Lager S, Comasco E, Lyle R, Skalkidou A (2022)
Maternal prenatal depressive symptoms and toddler behavior: an umbilical cord blood epigenome-wide association study
Transl Psychiatry, 12 (1), 186
DOI 10.1038/s41398-022-01954-6, PubMed 35513368

Langton DJ, Bhalekar RM, Joyce TJ, Rushton SP, Wainwright BJ, Nargol ME, Shyam N, Lie BA, Pabbruwe MB, Stewart AJ, Waller S, Natu S, Ren R, Hornick R, Darlay R, Su EP, Nargol AVF (2022)
The influence of HLA genotype on the development of metal hypersensitivity following joint replacement
Commun Med (Lond), 2, 73
DOI 10.1038/s43856-022-00137-0, PubMed 35761834

Lemma RB, Fleischer T, Martinsen E, Ledsaak M, Kristensen V, Eskeland R, Gabrielsen OS, Mathelier A (2022)
Pioneer transcription factors are associated with the modulation of DNA methylation patterns across cancers
Epigenetics Chromatin, 15 (1), 13
DOI 10.1186/s13072-022-00444-9, PubMed 35440061

Leren TP, Bogsrud MP (2022)
Cascade screening for familial hypercholesterolemia should be organized at a national level
Curr Opin Lipidol, 33 (4), 231-236
DOI 10.1097/MOL.0000000000000832, PubMed 35942821

Li J, Li YR, Glessner JT, Yang J, March ME, Kao C, Vaccaro CN, Bradfield JP, Li J, Mentch FD, Qu HQ, Qi X, Chang X, Hou C, Abrams DJ, Qiu H, Wei Z, Connolly JJ, Wang F, Snyder J, Flatø B, Thompson SD, Langefeld CD, Lie BA, Munro JE et al. (2022)
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis
Arthritis Rheumatol, 74 (8), 1420-1429
DOI 10.1002/art.42129, PubMed 35347896

Lirussi L, Ayyildiz D, Liu Y, Montaldo NP, Carracedo S, Aure MR, Jobert L, Tekpli X, Touma J, Sauer T, Dalla E, Kristensen VN, Geisler J, Piazza S, Tell G, Nilsen H (2022)
A regulatory network comprising let-7 miRNA and SMUG1 is associated with good prognosis in ER+ breast tumours
Nucleic Acids Res, 50 (18), 10449-10468
DOI 10.1093/nar/gkac807, PubMed 36156150

Maggadóttir SM, Kvalheim G, Wernhoff P, Sæbøe-Larssen S, Revheim ME, Josefsen D, Wälchli S, Helland Å, Inderberg EM (2022)
A phase I/II escalation trial design T-RAD: Treatment of metastatic lung cancer with mRNA-engineered T cells expressing a T cell receptor targeting human telomerase reverse transcriptase (hTERT)
Front Oncol, 12, 1031232
DOI 10.3389/fonc.2022.1031232, PubMed 36439452

Melnes T, Bogsrud MP, Thorsen I, Fossum J, Christensen JJ, Narverud I, Retterstøl K, Ulven SM, Holven KB (2022)
What characterizes event-free elderly FH patients? A comprehensive lipoprotein profiling
Nutr Metab Cardiovasc Dis, 32 (7), 1651-1660
DOI 10.1016/j.numecd.2022.03.028, PubMed 35527125

Metcalfe KA, Gronwald J, Tung NM, McCuaig JM, Eisen A, Elser C, Foulkes WD, Neuhausen SL, Senter L, Moller P, Bordeleau L, Fruscio R, Velsher L, Zakalik D, Olopade OI, Eng C, Pal T, Cullinane CA, Couch FJ, Kotsopoulos J, Sun P, Lubinski J, Narod SA (2022)
The risks of cancer in older women with BRCA pathogenic variants: How far have we come?
Cancer, 129 (6), 901-907
DOI 10.1002/cncr.34615, PubMed 36571512

Mo T, Brandal SHB, Köhn-Luque A, Engebraaten O, Kristensen VN, Fleischer T, Hompland T, Seierstad T (2022)
Quantification of Tumor Hypoxia through Unsupervised Modelling of Consumption and Supply Hypoxia MR Imaging in Breast Cancer
Cancers (Basel), 14 (5)
DOI 10.3390/cancers14051326, PubMed 35267636

Motazedi E, Cheng W, Thomassen JQ, Frei O, Rongve A, Athanasiu L, Bahrami S, Shadrin A, Ulstein I, Stordal E, Brækhus A, Saltvedt I, Sando SB, O'Connell KS, Hindley G, van der Meer D, Bergh S, Nordestgaard BG, Tybjærg-Hansen A, Bråthen G, Pihlstrøm L, Djurovic S, Frikke-Schmidt R, Fladby T, Aarsland D et al. (2022)
Using Polygenic Hazard Scores to Predict Age at Onset of Alzheimer's Disease in Nordic Populations
J Alzheimers Dis, 88 (4), 1533-1544
DOI 10.3233/JAD-220174, PubMed 35848024

Mundal LJ, Igland J, Svendsen K, Holven KB, Leren TP, Retterstøl K (2022)
Association of Familial Hypercholesterolemia and Statin Use With Risk of Dementia in Norway
JAMA Netw Open, 5 (4), e227715
DOI 10.1001/jamanetworkopen.2022.7715, PubMed 35438756

Normann LS, Haugen MH, Aure MR, Kristensen VN, Mælandsmo GM, Sahlberg KK (2022)
miR-101-5p Acts as a Tumor Suppressor in HER2-Positive Breast Cancer Cells and Improves Targeted Therapy
Breast Cancer (Dove Med Press), 14, 25-39
DOI 10.2147/BCTT.S338404, PubMed 35256859

Nustad HE, Steinsland I, Ollikainen M, Cazaly E, Kaprio J, Benjamini Y, Gervin K, Lyle R (2022)
Modeling dependency structures in 450k DNA methylation data
Bioinformatics, 38 (4), 885-891
DOI 10.1093/bioinformatics/btab774, PubMed 34788815

Olstad EW, Nordeng HME, Sandve GK, Lyle R, Gervin K (2022)
Low reliability of DNA methylation across Illumina Infinium platforms in cord blood: implications for replication studies and meta-analyses of prenatal exposures
Clin Epigenetics, 14 (1), 80
DOI 10.1186/s13148-022-01299-3, PubMed 35765087

Pedersen CA, Cao MD, Fleischer T, Rye MB, Knappskog S, Eikesdal HP, Lønning PE, Tost J, Kristensen VN, Tessem MB, Giskeødegård GF, Bathen TF (2022)
DNA methylation changes in response to neoadjuvant chemotherapy are associated with breast cancer survival
Breast Cancer Res, 24 (1), 43
DOI 10.1186/s13058-022-01537-9, PubMed 35751095

Pedersen S, Kverneland M, Nakken KO, Rudi K, Iversen PO, Gervin K, Selmer KK (2022)
Genome-wide decrease in DNA methylation in adults with epilepsy treated with modified ketogenic diet: A prospective study
Epilepsia, 63 (9), 2413-2426
DOI 10.1111/epi.17351, PubMed 35762681

Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R et al. (2022)
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
Front Cell Dev Biol, 10, 783762
DOI 10.3389/fcell.2022.783762, PubMed 35295849

Ratajska A, Vigeland MD, Wirgenes KV, Krohg-Sørensen K, Paus B (2022)
The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report
Mol Genet Genomic Med, 11 (2), e2107
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