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

51 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

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, , 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

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, 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

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

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

Dalen ML, Vigerust NF, Hammarström C, Holmstrøm H, Andresen JH (2022)
Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report
J Med Case Rep, 16 (1), 117
DOI 10.1186/s13256-022-03351-5, PubMed 35321730

de la Morena-Barrio ME, Suchon P, Jacobsen EM, Iversen N, Miñano A, de la Morena-Barrio B, Bravo-Perez 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 (in press)
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

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

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

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

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 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
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 (in press)
DOI 10.1038/s41391-022-00497-7, PubMed 35152271

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

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

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

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 (in press)
DOI 10.1016/j.numecd.2022.03.028, PubMed 35527125

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

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

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, Martinez-Salas E 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

Ribarska T, Bjørnstad PM, Sundaram AYM, Gilfillan GD (2022)
Optimization of enzymatic fragmentation is crucial to maximize genome coverage: a comparison of library preparation methods for Illumina sequencing
BMC Genomics, 23 (1), 92
DOI 10.1186/s12864-022-08316-y, PubMed 35105301

Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA et al. (2022)
Expanding the phenotypic spectrum of ARCN1-related syndrome
Genet Med (in press)
DOI 10.1016/j.gim.2022.02.005, PubMed 35300924

Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K (2022)
A woman in her fifties with chronic muscle weakness
Tidsskr Nor Laegeforen, 142 (1)
DOI 10.4045/tidsskr.21.0038, PubMed 35026081

Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K (2022)
Correction: A woman in her fifties with chronic muscle weakness
Tidsskr Nor Laegeforen, 142 (2)
DOI 10.4045/tidsskr.22.0032, PubMed 35107936

Saevarsdottir S, Stefansdottir L, Sulem P, Thorleifsson G, Ferkingstad E, Rutsdottir G, Glintborg B, Westerlind H, Grondal G, Loft IC, Sorensen SB, Lie BA, Brink M, Ärlestig L, Arnthorsson AO, Baecklund E, Banasik K, Bank S, Bjorkman LI, Ellingsen T, Erikstrup C, Frei O, Gjertsson I, Gudbjartsson DF, Gudjonsson SA et al. (2022)
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset
Ann Rheum Dis (in press)
DOI 10.1136/annrheumdis-2021-221754, PubMed 35470158

Soares JZ, Valeur J, Šaltytė Benth J, Knapskog AB, Selbæk G, Arefi G, Gilfillan GD, Tollisen A, Bogdanovic N, Pettersen R (2022)
Vitamin D in Alzheimer's Disease: Low Levels in Cerebrospinal Fluid Despite Normal Amounts in Serum
J Alzheimers Dis, 86 (3), 1301-1314
DOI 10.3233/JAD-215536, PubMed 35180126

Solhaug TS, Tjønnfjord GE, Bjørgo K, Kildahl-Andersen O (2022)
A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia
BMJ Case Rep, 15 (2)
DOI 10.1136/bcr-2021-247653, PubMed 35228238

Strømsvik N, Olsson P, Gravdehaug B, Lurås H, Schlichting E, Jørgensen K, Wangensteen T, Vamre T, Heramb C, Mæhle L, Grindedal EM (2022)
"It was an important part of my treatment": a qualitative study of Norwegian breast Cancer patients' experiences with mainstreamed genetic testing
Hered Cancer Clin Pract, 20 (1), 6
DOI 10.1186/s13053-022-00212-6, PubMed 35123550

Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D (2022)
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Brain (in press)
DOI 10.1093/brain/awac034, PubMed 35104841

Tellez-Gabriel M, Tekpli X, Reine TM, Hegge B, Nielsen SR, Chen M, Moi L, Normann LS, Busund LR, Calin GA, Mælandsmo GM, Perander M, Theocharis AD, Kolset SO, Knutsen E (2022)
Serglycin Is Involved in TGF-β Induced Epithelial-Mesenchymal Transition and Is Highly Expressed by Immune Cells in Breast Cancer Tissue
Front Oncol, 12, 868868
DOI 10.3389/fonc.2022.868868, PubMed 35494005

Torgersen K, Rahman Z, Bahrami S, Hindley GFL, Parker N, Frei O, Shadrin A, O'Connell KS, Tesli M, Smeland OB, Munkhaugen J, Djurovic S, Dammen T, Andreassen OA (2022)
Shared genetic loci between depression and cardiometabolic traits
PLoS Genet, 18 (5), e1010161 (in press)
DOI 10.1371/journal.pgen.1010161, PubMed 35560157

Trubetskoy V, Pardiñas AF, Qi T, Panagiotaropoulou G, Awasthi S, Bigdeli TB, Bryois J, Chen CY, Dennison CA, Hall LS, Lam M, Watanabe K, Frei O, Ge T, Harwood JC, Koopmans F, Magnusson S, Richards AL, Sidorenko J, Wu Y, Zeng J, Grove J, Kim M, Li Z, Voloudakis G et al. (2022)
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Nature, 604 (7906), 502-508
DOI 10.1038/s41586-022-04434-5, PubMed 35396580

Tønne E, Due-Tønnessen BJ, Vigeland MD, Amundsen SS, Ribarska T, Åsten PM, Sheng Y, Helseth E, Gilfillan GD, Mero IL, Heimdal KR (2022)
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
Am J Med Genet A, 188 (5), 1464-1475
DOI 10.1002/ajmg.a.62663, PubMed 35080095

Umu SU, Langseth H, Zuber V, Helland Å, Lyle R, Rounge TB (2022)
Serum RNAs can predict lung cancer up to 10 years prior to diagnosis
Elife, 11
DOI 10.7554/eLife.71035, PubMed 35147498

Vad OB, Yan Y, Denti F, Ahlberg G, Refsgaard L, Bomholtz SH, Santos JL, Rasmussen S, Haunsø S, Svendsen JH, Christophersen IE, Schmitt N, Olesen MS, Bentzen BH (2022)
Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation
Front Genet, 13, 806429
DOI 10.3389/fgene.2022.806429, PubMed 35154276

van der Meer D, Shadrin AA, O'Connell K, Bettella F, Djurovic S, Wolfers T, Alnæs D, Agartz I, Smeland OB, Melle I, Sánchez JM, Linden DEJ, Dale AM, Westlye LT, Andreassen OA, Frei O, Kaufmann T (2022)
Boosting Schizophrenia Genetics by Utilizing Genetic Overlap With Brain Morphology
Biol Psychiatry (in press)
DOI 10.1016/j.biopsych.2021.12.007, PubMed 35164939

Vigeland MD, Flåm ST, Vigeland MD, Espeland A, Kristoffersen PM, Vetti N, Wigemyr M, Bråten LCH, Gjefsen E, Schistad EI, Haugen AJ, Froholdt A, Skouen JS, Zwart JA, Storheim K, Pedersen LM, Lie BA, AIM Study Group (2022)
Correlation between gene expression and MRI STIR signals in patients with chronic low back pain and Modic changes indicates immune involvement
Sci Rep, 12 (1), 215
DOI 10.1038/s41598-021-04189-5, PubMed 34997115

Välikangas T, Lietzén N, Jaakkola MK, Krogvold L, Eike MC, Kallionpää H, Tuomela S, Mathews C, Gerling IC, Oikarinen S, Hyöty H, Dahl-Jorgensen K, Elo LL, Lahesmaa R (2022)
Pancreas Whole Tissue Transcriptomics Highlights the Role of the Exocrine Pancreas in Patients With Recently Diagnosed Type 1 Diabetes
Front Endocrinol (Lausanne), 13, 861985
DOI 10.3389/fendo.2022.861985, PubMed 35498413

Wang S, Rhijn JV, Akkouh I, Kogo N, Maas N, Bleeck A, Ortiz IS, Lewerissa E, Wu KM, Schoenmaker C, Djurovic S, van Bokhoven H, Kleefstra T, Nadif Kasri N, Schubert D (2022)
Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway
Cell Rep, 39 (5), 110790
DOI 10.1016/j.celrep.2022.110790, PubMed 35508131

Werner MCF, Wirgenes KV, Shadrin A, Lunding SH, Rødevand L, Hjell G, Ormerod MBEG, Haram M, Agartz I, Djurovic S, Melle I, Aukrust P, Ueland T, Andreassen OA, Steen NE (2022)
Immune marker levels in severe mental disorders: associations with polygenic risk scores of related mental phenotypes and psoriasis
Transl Psychiatry, 12 (1), 38
DOI 10.1038/s41398-022-01811-6, PubMed 35082268

Werner MCF, Wirgenes KV, Shadrin AA, Lunding SH, Rødevand L, Hjell G, Ormerod MBEG, Haram M, Agartz I, Djurovic S, Melle I, Aukrust P, Ueland T, Andreassen OA, Steen NE (2022)
Limited association between infections, autoimmune disease and genetic risk and immune activation in severe mental disorders
Prog Neuropsychopharmacol Biol Psychiatry, 116, 110511
DOI 10.1016/j.pnpbp.2022.110511, PubMed 35063598

Zhou YP, Mei MJ, Wang XZ, Huang SN, Chen L, Zhang M, Li XY, Qin HB, Dong X, Cheng S, Wen L, Yang B, An XF, He AD, Zhang B, Zeng WB, Li XJ, Lu Y, Li HC, Li H, Zou WG, Redwood AJ, Rayner S, Cheng H, McVoy MA et al. (2022)
A congenital CMV infection model for follow-up studies of neurodevelopmental disorders, neuroimaging abnormalities, and treatment
JCI Insight, 7 (1)
DOI 10.1172/jci.insight.152551, PubMed 35014624