Publika - Scientific publications from Oslo University Hospital

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Publications (original articles or review articles) published in 2024 from OUS - Department of Medical Genetics

15 publications found

Anjum M, Ariansen I, Hjellvik V, Selmer R, Kjerpeseth LJ, Skovlund E, Myrstad M, Ellekjær H, Christophersen IE, Tveit A, Berge T (2024)
Stroke and bleeding risk in atrial fibrillation with CHA2DS2-VASC risk score of one: the Norwegian AFNOR study
Eur Heart J, 45 (1), 57-66
DOI 10.1093/eurheartj/ehad659, PubMed 37995254

Balakittnen J, Ekanayake Weeramange C, Wallace DF, Duijf PHG, Cristino AS, Hartel G, Barrero RA, Taheri T, Kenny L, Vasani S, Batstone M, Breik O, Punyadeera C (2024)
A novel saliva-based miRNA profile to diagnose and predict oral cancer
Int J Oral Sci, 16 (1), 14
DOI 10.1038/s41368-023-00273-w, PubMed 38368395

Bhatia S, Khanna KK, Duijf PHG (2024)
Targeting chromosomal instability and aneuploidy in cancer
Trends Pharmacol Sci (in press)
DOI 10.1016/j.tips.2024.01.009, PubMed 38355324

de la Peña Avalos B, Paquet N, Tropée R, Coulombe Y, Palacios H, Leung JW, Masson JY, Duijf PHG, Dray E (2024)
The protein phosphatase EYA4 promotes homologous recombination (HR) through dephosphorylation of tyrosine 315 on RAD51
Nucleic Acids Res, 52 (3), 1173-1187
DOI 10.1093/nar/gkad1177, PubMed 38084915

Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H et al. (2024)
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Brain (in press)
DOI 10.1093/brain/awae010, PubMed 38217872

Holmgren A, Akkouh I, O'Connell KS, Osete JR, Bjørnstad PM, Djurovic S, Hughes T (2024)
Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples
Mol Psychiatry (in press)
DOI 10.1038/s41380-023-02398-0, PubMed 38351171

King ES, Tadele DS, Pierce B, Hinczewski M, Scott JG (2024)
Diverse mutant selection windows shape spatial heterogeneity in evolving populations
PLoS Comput Biol, 20 (2), e1011878 (in press)
DOI 10.1371/journal.pcbi.1011878, PubMed 38386690

Koch E, Kämpe A, Alver M, Sigurðarson S, Einarsson G, Partanen J, Smith RL, Jaholkowski P, Taipale H, Lähteenvuo M, Steen NE, Smeland OB, Djurovic S, Molden E, FinnGen, Estonian Biobank Research Team, Sigurdsson E, Stefánsson H, Stefánsson K, Palotie A, Milani L, O'Connell KS, Andreassen OA (2024)
Polygenic liability for antipsychotic dosage and polypharmacy - a real-world registry and biobank study
Neuropsychopharmacology (in press)
DOI 10.1038/s41386-023-01792-0, PubMed 38184734

Koch E, Pardiñas AF, O'Connell KS, Selvaggi P, Camacho Collados J, Babic A, Marshall SE, Van der Eycken E, Angulo C, Lu Y, Sullivan PF, Dale AM, Molden E, Posthuma D, White N, Schubert A, Djurovic S, Heimer H, Stefánsson H, Stefánsson K, Werge T, Sønderby I, O'Donovan MC, Walters JTR, Milani L et al. (2024)
How Real-World Data Can Facilitate the Development of Precision Medicine Treatment in Psychiatry
Biol Psychiatry (in press)
DOI 10.1016/j.biopsych.2024.01.001, PubMed 38185234

Lehtonen J, Sulonen AM, Almusa H, Lehtokari VL, Johari M, Palva A, Hakonen AH, Wartiovaara K, Lehesjoki AE, Udd B, Wallgren-Pettersson C, Pelin K, Savarese M, Saarela J (2024)
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
Sci Rep, 14 (1), 4306
DOI 10.1038/s41598-024-54866-4, PubMed 38383731

Lind SM, Sletten M, Hellenes M, Mathelier A, Tekpli X, Tinholt M, Iversen N (2024)
Coagulation factor V in breast cancer: A p53 regulated tumor suppressor and predictive marker for treatment response to chemotherapy
J Thromb Haemost (in press)
DOI 10.1016/j.jtha.2024.02.008, PubMed 38382738

Rauluseviciute I, Riudavets-Puig R, Blanc-Mathieu R, Castro-Mondragon JA, Ferenc K, Kumar V, Lemma RB, Lucas J, Chèneby J, Baranasic D, Khan A, Fornes O, Gundersen S, Johansen M, Hovig E, Lenhard B, Sandelin A, Wasserman WW, Parcy F, Mathelier A (2024)
JASPAR 2024: 20th anniversary of the open-access database of transcription factor binding profiles
Nucleic Acids Res, 52 (D1), D174-D182
DOI 10.1093/nar/gkad1059, PubMed 37962376

Seton KA, Espejo-Oltra JA, Giménez-Orenga K, Haagmans R, Ramadan DJ, Mehlsen J, European ME Research Group for Early Career Researchers (Young EMERG) (2024)
Advancing Research and Treatment: An Overview of Clinical Trials in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and Future Perspectives
J Clin Med, 13 (2)
DOI 10.3390/jcm13020325, PubMed 38256459

Tinholt M, Tekpli X, Torland LA, Tahiri A, Geisler J, Kristensen V, Sandset PM, Iversen N (2024)
The breast cancer coagulome in the tumor microenvironment and its role in prognosis and treatment response to chemotherapy
J Thromb Haemost (in press)
DOI 10.1016/j.jtha.2024.01.003, PubMed 38237862

Wortinger LA, Stavrum AK, Shadrin AA, Szabo A, Rukke SH, Nerland S, Smelror RE, Jørgensen KN, Barth C, Andreou D, Weibell MA, Djurovic S, Andreassen OA, Thoresen M, Ursini G, Agartz I, Le Hellard S (2024)
Divergent epigenetic responses to perinatal asphyxia in severe mental disorders
Transl Psychiatry, 14 (1), 16
DOI 10.1038/s41398-023-02709-7, PubMed 38191519

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