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

111 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

Akkouh IA, Ueland T, Szabo A, Hughes T, Smeland OB, Andreassen OA, Osete JR, Djurovic S (2023)
Longitudinal Transcriptomic Analysis of Human Cortical Spheroids Identifies Axonal Dysregulation in the Prenatal Brain as a Mediator of Genetic Risk for Schizophrenia
Biol Psychiatry, 95 (7), 687-698
DOI 10.1016/j.biopsych.2023.08.017, PubMed 37661009

Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, Melheim M, Sorte HS, Cízková D, Reims HM, Bezrouk A, Harrison SP, Strand J, Hermansen JU, Andersen SS, Eiklid KL, Mokrý J, Sullivan GJ, Stray-Pedersen A (2023)
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
J Hepatol, 79 (4), 945-954
DOI 10.1016/j.jhep.2023.05.037, PubMed 37328071

Álvarez I, Tirado-Herranz A, Alvarez-Palomo B, Osete JR, Edel MJ (2023)
Proteomic Analysis of Human iPSC-Derived Neural Stem Cells and Motor Neurons Identifies Proteasome Structural Alterations
Cells, 12 (24)
DOI 10.3390/cells12242800, PubMed 38132120

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

Bang L, Bahrami S, Hindley G, Smeland OB, Rødevand L, Jaholkowski PP, Shadrin A, Connell KSO, Frei O, Lin A, Rahman Z, Cheng W, Parker N, Fan CC, Dale AM, Djurovic S, Bulik CM, Andreassen OA (2023)
Genome-wide analysis of anorexia nervosa and major psychiatric disorders and related traits reveals genetic overlap and identifies novel risk loci for anorexia nervosa
Transl Psychiatry, 13 (1), 291
DOI 10.1038/s41398-023-02585-1, PubMed 37658054

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

Bhatia S, Gunter JH, Burgess JT, Adams MN, O'Byrne K, Thompson EW, Duijf PH (2023)
Stochastic epithelial-mesenchymal transitions diversify non-cancerous lung cell behaviours
Transl Oncol, 37, 101760
DOI 10.1016/j.tranon.2023.101760, PubMed 37611490

Birkenæs V, Refsum Bakken N, Frei E, Jaholkowski P, Smeland OB, Tesfaye M, Agartz I, Susser E, Bresnahan M, Røysamb E, Nordbø Jørgensen K, Nesvåg R, Havdahl A, Andreassen OA, Elken Sønderby I (2023)
Psychometric Properties and Diagnostic Associations of the Short-Form Community Assessment of Psychic Experiences in a Population-Based Sample of 29 021 Adult Men
Schizophr Bull, 49 (5), 1229-1238
DOI 10.1093/schbul/sbad074, PubMed 37262330

Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD (2023)
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
Eur J Hum Genet (in press)
DOI 10.1038/s41431-023-01494-7, PubMed 38030917

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

Boen R, Kaufmann T, van der Meer D, Frei O, Agartz I, Ames D, Andersson M, Armstrong NJ, Artiges E, Atkins JR, Bauer J, Benedetti F, Boomsma DI, Brodaty H, Brosch K, Buckner RL, Cairns MJ, Calhoun V, Caspers S, Cichon S, Corvin AP, Crespo-Facorro B, Dannlowski U, David FS, de Geus EJC et al. (2023)
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers
Biol Psychiatry, 95 (2), 147-160
DOI 10.1016/j.biopsych.2023.08.018, PubMed 37661008

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

Cockerell I, Christensen J, Hoei-Hansen CE, Holst L, Grenaa Frederiksen M, Issa-Epe AI, Nedregaard B, Solhoff R, Heimdal K, Johannessen Landmark C, Lund C, Nærland T (2023)
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
Orphanet J Rare Dis, 18 (1), 377
DOI 10.1186/s13023-023-02982-1, PubMed 38042867

Dahll LK, Westbye AB, Vinorum K, Sejersted Y, Barøy T, Thorsby PM, Hammerstad SS (2023)
Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha
J Endocr Soc, 7 (8), bvad089
DOI 10.1210/jendso/bvad089, PubMed 37469961

Darst BF, Shen J, Madduri RK, Rodriguez AA, Xiao Y, Sheng X, Saunders EJ, Dadaev T, Brook MN, Hoffmann TJ, Muir K, Wan P, Le Marchand L, Wilkens L, Wang Y, Schleutker J, MacInnis RJ, Cybulski C, Neal DE, Nordestgaard BG, Nielsen SF, Batra J, Clements JA, Cancer BioResource AP, Grönberg H et al. (2023)
Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
Am J Hum Genet, 110 (7), 1200-1206
DOI 10.1016/j.ajhg.2023.05.010, PubMed 37311464

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, 482 (6), 975-982
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
DOI 10.1016/j.scitotenv.2023.163599, PubMed 37100150

de la Peña Avalos B, Tropée R, Duijf PHG, Dray E (2023)
EYA4 promotes breast cancer progression and metastasis through its role in replication stress avoidance
Mol Cancer, 22 (1), 158
DOI 10.1186/s12943-023-01861-4, PubMed 37777742

Diaz-Lundahl S, Nørstebø SF, Klem TB, Gilfillan GD, Dalland M, Gillund P, Krogenæs A (2023)
The microbiota of uterine biopsies, cytobrush and vaginal swabs at artificial insemination in Norwegian red cows
Theriogenology, 209, 115-125
DOI 10.1016/j.theriogenology.2023.06.024, PubMed 37390751

Docherty AR, Mullins N, Ashley-Koch AE, Qin X, Coleman JRI, Shabalin A, Kang J, Murnyak B, Wendt F, Adams M, Campos AI, DiBlasi E, Fullerton JM, Kranzler HR, Bakian AV, Monson ET, Rentería ME, Walss-Bass C, Andreassen OA, Behera C, Bulik CM, Edenberg HJ, Kessler RC, Mann JJ, Nurnberger JI et al. (2023)
GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors
Am J Psychiatry, 180 (10), 723-738
DOI 10.1176/appi.ajp.21121266, PubMed 37777856

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

Figlioli G, Billaud A, Wang Q, Bolla MK, Dennis J, Lush M, Kvist A, Adank MA, Ahearn TU, Antonenkova NN, Auvinen P, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bonanni B, Brüning T, Camp NJ, Campbell A, Castelao JE, Cessna MH, Nbcs Collaborators, Czene K, Devilee P, Dörk T et al. (2023)
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Cancers (Basel), 15 (13)
DOI 10.3390/cancers15133313, PubMed 37444426

Fominykh V, Shadrin AA, Jaholkowski PP, Bahrami S, Athanasiu L, Wightman DP, Uffelmann E, Posthuma D, Selbæk G, Dale AM, Djurovic S, Frei O, Andreassen OA (2023)
Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system
Neurobiol Dis, 183, 106174
DOI 10.1016/j.nbd.2023.106174, PubMed 37286172

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, 51 (W1), W379-W386
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

Heimli M, Tennebø Flåm S, Sagsveen Hjorthaug H, Bjørnstad PM, Chernigovskaya M, Le QK, Tekpli X, Greiff V, Lie BA (2023)
Human thymic putative CD8αα precursors exhibit a biased TCR repertoire in single cell AIRR-seq
Sci Rep, 13 (1), 17714
DOI 10.1038/s41598-023-44693-4, PubMed 37853083

Hindley G, Drange OK, Lin A, Kutrolli G, Shadrin AA, Parker N, O'Connell KS, Rødevand L, Cheng W, Bahrami S, Karadag N, Holen B, Jaholkowski P, Woldeyohannes MT, Djurovic S, Dale AM, Frei O, Ueland T, Smeland OB, Andreassen OA (2023)
Cross-trait genome-wide association analysis of C-reactive protein level and psychiatric disorders
Psychoneuroendocrinology, 157, 106368
DOI 10.1016/j.psyneuen.2023.106368, PubMed 37659117

Hindley G, Shadrin AA, van der Meer D, Parker N, Cheng W, O'Connell KS, Bahrami S, Lin A, Karadag N, Holen B, Bjella T, Deary IJ, Davies G, Hill WD, Bressler J, Seshadri S, Fan CC, Ueland T, Djurovic S, Smeland OB, Frei O, Dale AM, Andreassen OA (2023)
Multivariate genetic analysis of personality and cognitive traits reveals abundant pleiotropy
Nat Hum Behav, 7 (9), 1584-1600
DOI 10.1038/s41562-023-01630-9, PubMed 37365406

Hjell G, Rokicki J, Szabo A, Holst R, Tesli N, Bell C, Fischer-Vieler T, Werner MCF, Lunding SH, Ormerod MBEG, Johansen IT, Djurovic S, Ueland T, Andreassen OA, Melle I, Lagerberg TV, Mørch-Johnsen L, Steen NE, Haukvik UK (2023)
Impulsivity across severe mental disorders: a cross-sectional study of immune markers and psychopharmacotherapy
BMC Psychiatry, 23 (1), 659
DOI 10.1186/s12888-023-05154-4, PubMed 37674162

Holen B, Kutrolli G, Shadrin AA, Icick R, Hindley G, Rødevand L, O'Connell KS, Frei O, Parker N, Tesfaye M, Deak JD, Jahołkowski P, Dale AM, Djurovic S, Andreassen OA, Smeland OB (2023)
Genome-wide analyses reveal shared genetic architecture and novel risk loci between opioid use disorder and general cognitive ability
Drug Alcohol Depend, 256, 111058
DOI 10.1016/j.drugalcdep.2023.111058, PubMed 38244365

Holen B, Shadrin AA, Icick R, Filiz TT, Hindley G, Rødevand L, O'Connell KS, Hagen E, Frei O, Bahrami S, Cheng W, Parker N, Tesfaye M, Jahołkowski P, Karadag N, Dale AM, Djurovic S, Smeland OB, Andreassen OA (2023)
Genome-wide analyses reveal novel opioid use disorder loci and genetic overlap with schizophrenia, bipolar disorder, and major depression
Addict Biol, 28 (6), e13282
DOI 10.1111/adb.13282, PubMed 37252880

Hope S, Shadrin AA, Lin A, Bahrami S, Rødevand L, Frei O, Hübenette SJ, Cheng W, Hindley G, Nag H, Ulstein L, Efrim-Budisteanu M, O'Connell K, Dale AM, Djurovic S, Nærland T, Andreassen OA (2023)
Bidirectional genetic overlap between autism spectrum disorder and cognitive traits
Transl Psychiatry, 13 (1), 295
DOI 10.1038/s41398-023-02563-7, PubMed 37709755

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

Huang X, Duijf PHG, Sriram S, Perera G, Vasani S, Kenny L, Leo P, Punyadeera C (2023)
Circulating tumour DNA alterations: emerging biomarker in head and neck squamous cell carcinoma
J Biomed Sci, 30 (1), 65
DOI 10.1186/s12929-023-00953-z, PubMed 37559138

Huang X, Leo P, Jones L, Duijf PHG, Hartel G, Kenny L, Vasani S, Punyadeera C (2023)
A comparison between mutational profiles in tumour tissue DNA and circulating tumour DNA in head and neck squamous cell carcinoma - A systematic review
Mutat Res Rev Mutat Res, 793, 108477 (in press)
DOI 10.1016/j.mrrev.2023.108477, PubMed 37977279

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

Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G (2023)
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
NPJ Genom Med, 8 (1), 39
DOI 10.1038/s41525-023-00380-x, PubMed 37993442

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, 49 (6), 1654-1664
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, 80 (7), 738-742
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

Jørgensen OJ, Steineger JE, Hillarp A, Pareli Wåland E, Holme PA, Heimdal K, Dheyauldeen S (2023)
Elevated FVIII levels in hereditary hemorrhagic telangiectasia: Implications for clinical management
Laryngoscope Investig Otolaryngol, 9 (1), e1196
DOI 10.1002/lio2.1196, PubMed 38362186

Karadag N, Shadrin AA, O'Connell KS, 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, 146 (8), 3392-3403
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, 7 (6), 1001-1017
DOI 10.1038/s41562-023-01541-9, PubMed 36864136

Kumar K, Modenato C, Moreau C, Ching CRK, Harvey A, Martin-Brevet S, Huguet G, Jean-Louis M, Douard E, Martin CO, Younis N, Tamer P, Maillard AM, Rodriguez-Herreros B, Pain A, 16p11.2 European Consortium, Simons Searchlight Consortium, Kushan L, Isaev D, Alpert K, Ragothaman A, Turner JA, Wang L, Ho TC, Schmaal L, Silva AI et al. (2023)
Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants
Am J Psychiatry, 180 (9), 685-698
DOI 10.1176/appi.ajp.20220304, PubMed 37434504

Landsend ECS, von der Lippe C, Mediå L, Miller JU, Berge KE, Sigurdardottir S (2023)
Relationship between physical and psychological functioning and health-related quality of life in congenital Aniridia
Acta Ophthalmol (in press)
DOI 10.1111/aos.16615, PubMed 38131258

Lazado CC, Iversen M, Johansen LH, Brenne H, Sundaram AYM, Ytteborg E (2023)
Nasal responses to elevated temperature and Francisella noatunensis infection in Atlantic cod (Gadus morhua)
Genomics, 115 (6), 110735
DOI 10.1016/j.ygeno.2023.110735, PubMed 37898334

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

Lekva T, Michelsen AE, Roland MCP, Norwitz ER, Estensen ME, Olstad OK, Akkouh IA, Henriksen T, Bollerslev J, Aukrust P, Ueland T (2023)
Increased ferroptosis in leukocytes from preeclamptic women involving the long non-coding taurine upregulated gene 1 (TUG1)
J Intern Med, 295 (2), 181-195
DOI 10.1111/joim.13732, PubMed 37870937

Lekva T, Sundaram AYF, Roland MCP, Åsheim J, Michelsen AE, Norwitz ER, Aukrust P, Gilfillan GD, Ueland T (2023)
Platelet and mitochondrial RNA is decreased in plasma-derived extracellular vesicles in women with preeclampsia-an exploratory study
BMC Med, 21 (1), 458
DOI 10.1186/s12916-023-03178-x, PubMed 37996819

Levi H, Carmi S, Rosset S, Yerushalmi R, Zick A, Yablonski-Peretz T, BCAC Consortium, Wang Q, Bolla MK, Dennis J, Michailidou K, Lush M, Ahearn T, Andrulis IL, Anton-Culver H, Antoniou AC, Arndt V, Augustinsson A, Auvinen P, Beane Freeman L, Beckmann M, Behrens S, Bermisheva M, Bodelon C, Bogdanova NV et al. (2023)
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
J Med Genet, 60 (12), 1186-1197
DOI 10.1136/jmg-2023-109185, PubMed 37451831

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
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Molecular genetic testing and measurement of levels of GPIHBP1 autoantibodies in patients with severe hypertriglyceridemia: The importance of identifying the underlying cause of hypertriglyceridemia
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Loss of Cardiac Splicing Regulator RBM20 Is Associated With Early-Onset Atrial Fibrillation
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