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Publications (original articles or review articles) published in 2021 from OUS - Department of Medical Genetics

103 publications found

Akkouh IA, Hughes T, Steen VM, Glover JC, Andreassen OA, Djurovic S, Szabo A (2021)
Transcriptome analysis reveals disparate expression of inflammation-related miRNAs and their gene targets in iPSC-astrocytes from people with schizophrenia
Brain Behav Immun, 94, 235-244
DOI 10.1016/j.bbi.2021.01.037, PubMed 33571628

Ali M, Giannakopoulou E, Li Y, Lehander M, Virding Culleton S, Yang W, Knetter C, Odabasi MC, Bollineni RC, Yang X, Foldvari Z, Böschen ML, Taraldsrud E, Strønen E, Toebes M, Hillen A, Mazzi S, de Ru AH, Janssen GMC, Kolstad A, Tjønnfjord GE, Lie BA, Griffioen M, Lehmann S, Osnes LT et al. (2021)
T cells targeted to TdT kill leukemic lymphoblasts while sparing normal lymphocytes
Nat Biotechnol, 40 (4), 488-498
DOI 10.1038/s41587-021-01089-x, PubMed 34873326

Andersen E, Chollet ME, Sletten M, Stavik B, Skarpen E, Backe PH, Thiede B, Glosli H, Henriksson CE, Iversen N (2021)
Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding
Thromb Haemost, 121 (12), 1588-1598
DOI 10.1055/a-1450-8568, PubMed 33742435

Andreou D, Steen NE, Jørgensen KN, Smelror RE, Wedervang-Resell K, Nerland S, Westlye LT, Nærland T, Myhre AM, Joa I, Reitan SMK, Vaaler A, Morken G, Bøen E, Elvsåshagen T, Boye B, Malt UF, Aukrust P, Skrede S, Kroken RA, Johnsen E, Djurovic S, Andreassen OA, Ueland T, Agartz I (2021)
Lower circulating neuron-specific enolase concentrations in adults and adolescents with severe mental illness
Psychol Med, 53 (4), 1479-1488
DOI 10.1017/S0033291721003056, PubMed 35387700

Andresen MS, Sletten M, Sandset PM, Iversen N, Stavik B, Tinholt M (2021)
Coagulation Factor V (F5) is an Estrogen-Responsive Gene in Breast Cancer Cells
Thromb Haemost, 122 (8), 1288-1295
DOI 10.1055/a-1707-2130, PubMed 34826880

Aure MR, Fleischer T, Bjørklund S, Ankill J, Castro-Mondragon JA, OSBREAC, Børresen-Dale AL, Tost J, Sahlberg KK, Mathelier A, Tekpli X, Kristensen VN (2021)
Crosstalk between microRNA expression and DNA methylation drives the hormone-dependent phenotype of breast cancer
Genome Med, 13 (1), 72
DOI 10.1186/s13073-021-00880-4, PubMed 33926515

Bahrami S, Shadrin A, Frei O, O'Connell KS, Bettella F, Krull F, Fan CC, Røssberg JI, Hindley G, Ueland T, Dale AM, Djurovic S, Steen NE, Smeland OB, Andreassen OA (2021)
Genetic loci shared between major depression and intelligence with mixed directions of effect
Nat Hum Behav, 5 (6), 795-801
DOI 10.1038/s41562-020-01031-2, PubMed 33462475

Bancroft EK, Page EC, Brook MN, Thomas S, Taylor N, Pope J, McHugh J, Jones AB, Karlsson Q, Merson S, Ong KR, Hoffman J, Huber C, Maehle L, Grindedal EM, Stormorken A, Evans DG, Rothwell J, Lalloo F, Brady AF, Bartlett M, Snape K, Hanson H, James P, McKinley J et al. (2021)
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
Lancet Oncol, 22 (11), 1618-1631
DOI 10.1016/S1470-2045(21)00522-2, PubMed 34678156

Baxter JS, Johnson N, Tomczyk K, Gillespie A, Maguire S, Brough R, Fachal L, Michailidou K, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE et al. (2021)
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
Am J Hum Genet, 108 (7), 1190-1203
DOI 10.1016/j.ajhg.2021.05.013, PubMed 34146516

Ben-Elazar S, Aure MR, Jonsdottir K, Leivonen SK, Kristensen VN, Janssen EAM, Kleivi Sahlberg K, Lingjærde OC, Yakhini Z (2021)
miRNA normalization enables joint analysis of several datasets to increase sensitivity and to reveal novel miRNAs differentially expressed in breast cancer
PLoS Comput Biol, 17 (2), e1008608
DOI 10.1371/journal.pcbi.1008608, PubMed 33566819

Berland S, Rustad CF, Bentsen MHL, Wollen EJ, Turowski G, Johansson S, Houge G, Haukanes BI (2021)
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features
Cold Spring Harb Mol Case Stud, 7 (6)
DOI 10.1101/mcs.a006113, PubMed 34615670

Birkenæs V, Elvsåshagen T, Westlye LT, Høegh MC, Haram M, Werner MCF, Quintana DS, Lunding SH, Martin-Ruiz C, Agartz I, Djurovic S, Steen NE, Andreassen OA, Aas M (2021)
Telomeres are shorter and associated with number of suicide attempts in affective disorders
J Affect Disord, 295, 1032-1039
DOI 10.1016/j.jad.2021.08.135, PubMed 34706411

Blokland GAM, Grove J, Chen CY, Cotsapas C, Tobet S, Handa R, Schizophrenia Working Group of the Psychiatric Genomics Consortium, St Clair D, Lencz T, Mowry BJ, Periyasamy S, Cairns MJ, Tooney PA, Wu JQ, Kelly B, Kirov G, Sullivan PF, Corvin A, Riley BP, Esko T, Milani L, Jönsson EG, Palotie A, Ehrenreich H, Begemann M et al. (2021)
Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders
Biol Psychiatry, 91 (1), 102-117
DOI 10.1016/j.biopsych.2021.02.972, PubMed 34099189

Cheng W, Frei O, van der Meer D, Wang Y, O'Connell KS, Chu Y, Bahrami S, Shadrin AA, Alnæs D, Hindley GFL, Lin A, Karadag N, Fan CC, Westlye LT, Kaufmann T, Molden E, Dale AM, Djurovic S, Smeland OB, Andreassen OA (2021)
Genetic Association Between Schizophrenia and Cortical Brain Surface Area and Thickness
JAMA Psychiatry, 78 (9), 1020-1030
DOI 10.1001/jamapsychiatry.2021.1435, PubMed 34160554

Conti DV, Darst BF, Moss LC, Saunders EJ, Sheng X, Chou A, Schumacher FR, Olama AAA, Benlloch S, Dadaev T, Brook MN, Sahimi A, Hoffmann TJ, Takahashi A, Matsuda K, Momozawa Y, Fujita M, Muir K, Lophatananon A, Wan P, Le Marchand L, Wilkens LR, Stevens VL, Gapstur SM, Carter BD et al. (2021)
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Nat Genet, 53 (1), 65-75
DOI 10.1038/s41588-020-00748-0, PubMed 33398198

Creary LE, Gangavarapu S, Caillier SJ, Cavalcante P, Frangiamore R, Lie BA, Bengtsson M, Harbo HF, Brauner S, Hollenbach JA, Oksenberg JR, Bernasconi P, Maniaol AH, Hammarström L, Mantegazza R, Fernández-Viña MA (2021)
Next-Generation Sequencing Identifies Extended HLA Class I and II Haplotypes Associated With Early-Onset and Late-Onset Myasthenia Gravis in Italian, Norwegian, and Swedish Populations
Front Immunol, 12, 667336
DOI 10.3389/fimmu.2021.667336, PubMed 34163474

Cui XY, Tjønnfjord GE, Kanse SM, Dahm AEA, Iversen N, Myklebust CF, Sun L, Jiang ZX, Ueland T, Campbell JJ, Ho M, Sandset PM (2021)
Tissue factor pathway inhibitor upregulates CXCR7 expression and enhances CXCL12-mediated migration in chronic lymphocytic leukemia
Sci Rep, 11 (1), 5127
DOI 10.1038/s41598-021-84695-8, PubMed 33664415

de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M et al. (2021)
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nat Commun, 12 (1), 3417
DOI 10.1038/s41467-021-22491-8, PubMed 34099642

DeMichele-Sweet MAA, Klei L, Creese B, Harwood JC, Weamer EA, McClain L, Sims R, Hernandez I, Moreno-Grau S, Tárraga L, Boada M, Alarcón-Martín E, Valero S, NIA-LOAD Family Based Study Consortium, Alzheimer’s Disease Genetics Consortium (ADGC), Liu Y, Hooli B, Aarsland D, Selbaek G, Bergh S, Rongve A, Saltvedt I, Skjellegrind HK, Engdahl B, Stordal E, Andreassen OA et al. (2021)
Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease
Mol Psychiatry, 26 (10), 5797-5811
DOI 10.1038/s41380-021-01152-8, PubMed 34112972

Denault WRP, Romanowska J, Haaland ØA, Lyle R, Taylor JA, Xu Z, Lie RT, Gjessing HK, Jugessur A (2021)
Wavelet Screening identifies regions highly enriched for differentially methylated loci for orofacial clefts
NAR Genom Bioinform, 3 (2), lqab035
DOI 10.1093/nargab/lqab035, PubMed 33987535

Escala-Garcia M, Canisius S, Keeman R, Beesley J, Anton-Culver H, Arndt V, Augustinsson A, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bojesen SE, Bolla MK, Brenner H, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Couch FJ, Czene K, Daly MB, Dennis J, Devilee P, Dörk T, Dunning AM et al. (2021)
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
Sci Rep, 11 (1), 19787
DOI 10.1038/s41598-021-99409-3, PubMed 34611289

Fjukstad KK, Athanasiu L, Bahrami S, O'Connell KS, van der Meer D, Bettella F, Dieset I, Steen NE, Djurovic S, Spigset O, Andreassen OA (2021)
Genetic variants associated with cardiometabolic abnormalities during treatment with selective serotonin reuptake inhibitors: a genome-wide association study
Pharmacogenomics J, 21 (5), 574-585
DOI 10.1038/s41397-021-00234-8, PubMed 33824429

Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, Sitek JC, Vigeland MD, Backe PH, Øye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK (2021)
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome
Hum Mol Genet, 30 (21), 1919-1931
DOI 10.1093/hmg/ddab144, PubMed 34124757

Futema M, Ramaswami U, Tichy L, Bogsrud MP, Holven KB, Roeters van Lennep J, Wiegman A, Descamps OS, De Leener A, Fastre E, Vrablik M, Freiberger T, Esterbauer H, Dieplinger H, Greber-Platzer S, Medeiros AM, Bourbon M, Mollaki V, Drogari E, Humphries SE (2021)
Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
Atherosclerosis, 319, 108-117
DOI 10.1016/j.atherosclerosis.2021.01.008, PubMed 33508743

Gansmo LB, Lie BA, Mæhlen MT, Vatten L, Romundstad P, Hveem K, Lønning PE, Knappskog S (2021)
Polymorphisms in the TP53-MDM2-MDM4-axis in patients with rheumatoid arthritis
Gene, 793, 145747
DOI 10.1016/j.gene.2021.145747, PubMed 34077778

Geoffroy V, Guignard T, Kress A, Gaillard JB, Solli-Nowlan T, Schalk A, Gatinois V, Dollfus H, Scheidecker S, Muller J (2021)
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
Nucleic Acids Res, 49 (W1), W21-W28
DOI 10.1093/nar/gkab402, PubMed 34023905

Gjefsen E, Gervin K, Goll G, Bråten LCH, Wigemyr M, Aass HCD, Vigeland MD, Schistad E, Pedersen LM, Pripp AH, Storheim K, Selmer KK, Zwart JA (2021)
Macrophage migration inhibitory factor: a potential biomarker for chronic low back pain in patients with Modic changes
RMD Open, 7 (2)
DOI 10.1136/rmdopen-2021-001726, PubMed 34344830

Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J et al. (2021)
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Am J Med Genet A, 185 (5), 1366-1378
DOI 10.1002/ajmg.a.62102, PubMed 33522091

Guderud K, Sunde LH, Flåm ST, Mæhlen MT, Mjaavatten MD, Norli ES, Evenrød IM, Andreassen BK, Franzenburg S, Franke A, Rayner S, Gervin K, Lie BA (2021)
Methotrexate Treatment of Newly Diagnosed RA Patients Is Associated With DNA Methylation Differences at Genes Relevant for Disease Pathogenesis and Pharmacological Action
Front Immunol, 12, 713611
DOI 10.3389/fimmu.2021.713611, PubMed 34867944

Gulcebi MI, Bartolini E, Lee O, Lisgaras CP, Onat F, Mifsud J, Striano P, Vezzani A, Hildebrand MS, Jimenez-Jimenez D, Junck L, Lewis-Smith D, Scheffer IE, Thijs RD, Zuberi SM, Blenkinsop S, Fowler HJ, Foley A, Epilepsy Climate Change Consortium, Sisodiya SM (2021)
Climate change and epilepsy: Insights from clinical and basic science studies
Epilepsy Behav, 116, 107791
DOI 10.1016/j.yebeh.2021.107791, PubMed 33578223

Gurholt TP, Kaufmann T, Frei O, Alnæs D, Haukvik UK, van der Meer D, Moberget T, O'Connell KS, Leinhard OD, Linge J, Simon R, Smeland OB, Sønderby IE, Winterton A, Steen NE, Westlye LT, Andreassen OA (2021)
Population-based body-brain mapping links brain morphology with anthropometrics and body composition
Transl Psychiatry, 11 (1), 295
DOI 10.1038/s41398-021-01414-7, PubMed 34006848

Haftorn KL, Lee Y, Denault WRP, Page CM, Nustad HE, Lyle R, Gjessing HK, Malmberg A, Magnus MC, Næss Ø, Czamara D, Räikkönen K, Lahti J, Magnus P, Håberg SE, Jugessur A, Bohlin J (2021)
An EPIC predictor of gestational age and its application to newborns conceived by assisted reproductive technologies
Clin Epigenetics, 13 (1), 82
DOI 10.1186/s13148-021-01055-z, PubMed 33875015

Hajdarevic R, Lande A, Rekeland I, Rydland A, Strand EB, Sosa DD, Creary LE, Mella O, Egeland T, Saugstad OD, Fluge Ø, Lie BA, Viken MK (2021)
Fine mapping of the major histocompatibility complex (MHC) in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) suggests involvement of both HLA class I and class II loci
Brain Behav Immun, 98, 101-109
DOI 10.1016/j.bbi.2021.08.219, PubMed 34403736

Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL et al. (2021)
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Genet Med, 23 (6), 1028-1040
DOI 10.1038/s41436-021-01114-z, PubMed 33658631

Heinicke F, Zhong X, Flåm ST, Breidenbach J, Leithaug M, Mæhlen MT, Lillegraven S, Aga AB, Norli ES, Mjaavatten MD, Haavardsholm EA, Zucknick M, Rayner S, Lie BA (2021)
MicroRNA Expression Differences in Blood-Derived CD19+ B Cells of Methotrexate Treated Rheumatoid Arthritis Patients
Front Immunol, 12, 663736
DOI 10.3389/fimmu.2021.663736, PubMed 33897713

Hellstrøm T, Andelic N, de Lange AG, Helseth E, Eiklid K, Westlye LT (2021)
Apolipoprotein ɛ4 Status and Brain Structure 12 Months after Mild Traumatic Injury: Brain Age Prediction Using Brain Morphometry and Diffusion Tensor Imaging
J Clin Med, 10 (3)
DOI 10.3390/jcm10030418, PubMed 33499167

Hetemäki I, Kaustio M, Kinnunen M, Heikkilä N, Keskitalo S, Nowlan K, Miettinen S, Sarkkinen J, Glumoff V, Andersson N, Kettunen K, Vanhanen R, Nurmi K, Eklund KK, Dunkel J, Mäyränpää MI, Schlums H, Arstila TP, Kisand K, Bryceson YT, Peterson P, Otava U, Syrjänen J, Saarela J, Varjosalo M et al. (2021)
Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells
Sci Immunol, 6 (65), eabe3454
DOI 10.1126/sciimmunol.abe3454, PubMed 34826260

Hindley G, Bahrami S, Steen NE, O'Connell KS, Frei O, Shadrin A, Bettella F, Rødevand L, Fan CC, Dale AM, Djurovic S, Smeland OB, Andreassen OA (2021)
Characterising the shared genetic determinants of bipolar disorder, schizophrenia and risk-taking
Transl Psychiatry, 11 (1), 466
DOI 10.1038/s41398-021-01576-4, PubMed 34497263

Huynh-Le MP, Fan CC, Karunamuni R, Thompson WK, Martinez ME, Eeles RA, Kote-Jarai Z, Muir K, Schleutker J, Pashayan N, Batra J, Grönberg H, Neal DE, Donovan JL, Hamdy FC, Martin RM, Nielsen SF, Nordestgaard BG, Wiklund F, Tangen CM, Giles GG, Wolk A, Albanes D, Travis RC, Blot WJ et al. (2021)
Polygenic hazard score is associated with prostate cancer in multi-ethnic populations
Nat Commun, 12 (1), 1236
DOI 10.1038/s41467-021-21287-0, PubMed 33623038

Johannessen J, Nærland T, Hope S, Torske T, Kaale A, Wirgenes KV, Malt E, Djurovic S, Rietschel M, Andreassen OA (2021)
Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health
Eur J Hum Genet, 30 (10), 1138-1146
DOI 10.1038/s41431-021-00966-y, PubMed 34776508

Johnsen GM, Fjeldstad HES, Drabbels JJM, Haasnoot GW, Eikmans M, Størvold GL, Alnaes-Katjavivi P, Jacobsen DP, Scherjon SA, Redman CWG, Claas FHJ, Staff AC (2021)
A possible role for HLA-G in development of uteroplacental acute atherosis in preeclampsia
J Reprod Immunol, 144, 103284
DOI 10.1016/j.jri.2021.103284, PubMed 33578175

Johnson N, Maguire S, Morra A, Kapoor PM, Tomczyk K, Jones ME, Schoemaker MJ, Gilham C, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baynes C, Freeman LEB, Beckmann MW, Benitez J, Bermisheva M, Blomqvist C, Boeckx B et al. (2021)
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
Br J Cancer, 124 (4), 842-854
DOI 10.1038/s41416-020-01185-w, PubMed 33495599

Jørgensen SF, Buechner J, Myhre AE, Galteland E, Spetalen S, Kulseth MA, Sorte HS, Holla ØL, Lundman E, Alme C, Heier I, Flægstad T, Fløisand Y, Benneche A, Fevang B, Aukrust P, Stray-Pedersen A, Gedde-Dahl T, Nordøy I (2021)
A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT
J Clin Immunol, 42 (2), 404-420
DOI 10.1007/s10875-021-01189-y, PubMed 34893945

Kaitetzidou E, Gilfillan GD, Antonopoulou E, Sarropoulou E (2021)
Sex-biased dynamics of three-spined stickleback (Gasterosteus aculeatus) gene expression patterns
Genomics, 114 (1), 266-277
DOI 10.1016/j.ygeno.2021.12.010, PubMed 34933072

Kallak TK, Bränn E, Fransson E, Johansson Å, Lager S, Comasco E, Lyle R, Skalkidou A (2021)
DNA methylation in cord blood in association with prenatal depressive symptoms
Clin Epigenetics, 13 (1), 78
DOI 10.1186/s13148-021-01054-0, PubMed 33845866

Kalman JL, Olde Loohuis LM, Vreeker A, McQuillin A, Stahl EA, Ruderfer D, Grigoroiu-Serbanescu M, Panagiotaropoulou G, Ripke S, Bigdeli TB, Stein F, Meller T, Meinert S, Pelin H, Streit F, Papiol S, Adams MJ, Adolfsson R, Adorjan K, Agartz I, Aminoff SR, Anderson-Schmidt H, Andreassen OA, Ardau R, Aubry JM et al. (2021)
Characterisation of age and polarity at onset in bipolar disorder
Br J Psychiatry, 219 (6), 659-669
DOI 10.1192/bjp.2021.102, PubMed 35048876

Karunamuni RA, Huynh-Le MP, Fan CC, Thompson W, Eeles RA, Kote-Jarai Z, Muir K, Lophatananon A, UKGPCS collaborators, Schleutker J, Pashayan N, Batra J, APCB BioResource (Australian Prostate Cancer BioResource), Grönberg H, Walsh EI, Turner EL, Lane A, Martin RM, Neal DE, Donovan JL, Hamdy FC, Nordestgaard BG, Tangen CM, MacInnis RJ, Wolk A et al. (2021)
Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer
Prostate Cancer Prostatic Dis, 24 (2), 532-541
DOI 10.1038/s41391-020-00311-2, PubMed 33420416

Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H et al. (2021)
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction
J Allergy Clin Immunol, 148 (2), 599-611
DOI 10.1016/j.jaci.2020.12.656, PubMed 33662367

Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A et al. (2021)
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Nat Commun, 12 (1), 2558
DOI 10.1038/s41467-021-22627-w, PubMed 33963192

Krull F, Akkouh I, Hughes T, Bettella F, Athanasiu L, Smeland OB, O'Connell KS, Brattbakk HR, Steen VM, Steen NE, Djurovic S, Andreassen OA (2021)
Dose-dependent transcriptional effects of lithium and adverse effect burden in a psychiatric cohort
Prog Neuropsychopharmacol Biol Psychiatry, 112, 110408
DOI 10.1016/j.pnpbp.2021.110408, PubMed 34320404

Kværner AS, Birkeland E, Bucher-Johannessen C, Vinberg E, Nordby JI, Kangas H, Bemanian V, Ellonen P, Botteri E, Natvig E, Rognes T, Hovig E, Lyle R, Ambur OH, de Vos WM, Bultman S, Hjartåker A, Landberg R, Song M, Blix HS, Ursin G, Randel KR, de Lange T, Hoff G, Holme Ø et al. (2021)
The CRCbiome study: a large prospective cohort study examining the role of lifestyle and the gut microbiome in colorectal cancer screening participants
BMC Cancer, 21 (1), 930
DOI 10.1186/s12885-021-08640-8, PubMed 34407780

Lam M, Chen CY, Ge T, Xia Y, Hill DW, Trampush JW, Yu J, Knowles E, Davies G, Stahl EA, Huckins L, Liewald DC, Djurovic S, Melle I, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I et al. (2021)
Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics
Neuropsychopharmacology, 46 (10), 1788-1801
DOI 10.1038/s41386-021-01023-4, PubMed 34035472

Leren TP, Bogsrud MP (2021)
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
Atherosclerosis, 322, 61-66
DOI 10.1016/j.atherosclerosis.2021.02.022, PubMed 33740630

Leren TP, Bogsrud MP (2021)
The importance of cascade genetic screening for diagnosing autosomal dominant hypercholesterolemia: Results from twenty years of a national screening program in Norway
J Clin Lipidol, 15 (5), 674-681
DOI 10.1016/j.jacl.2021.08.007, PubMed 34479846

Levy-Jurgenson A, Tekpli X, Yakhini Z (2021)
Assessing heterogeneity in spatial data using the HTA index with applications to spatial transcriptomics and imaging
Bioinformatics, 37 (21), 3796-3804
DOI 10.1093/bioinformatics/btab569, PubMed 34358288

Lind A, Barlinn R, Landaas ET, Andresen LL, Jakobsen K, Fladeby C, Nilsen M, Bjørnstad PM, Sundaram AYM, Ribarska T, Müller F, Gilfillan GD, Holberg-Petersen M (2021)
Rapid SARS-CoV-2 variant monitoring using PCR confirmed by whole genome sequencing in a high-volume diagnostic laboratory
J Clin Virol, 141, 104906
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