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

11 publications found

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

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 (in press)
DOI 10.1038/s41431-022-01257-w, PubMed 36707629

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

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 (in press)
DOI 10.1016/j.eplepsyres.2023.107099, PubMed 36731270

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

Mueller SH, Lai AG, Valkovskaya M, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Abu-Ful Z, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baert T, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE et al. (2023)
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Genome Med, 15 (1), 7
DOI 10.1186/s13073-022-01152-5, PubMed 36703164

Normann LS, Haugen MH, Hongisto V, Aure MR, Leivonen SK, Kristensen VN, Tahiri A, Engebraaten O, Sahlberg KK, Mælandsmo GM (2023)
High-throughput screen in vitro identifies dasatinib as a candidate for combinatorial treatment with HER2-targeting drugs in breast cancer
PLoS One, 18 (1), e0280507
DOI 10.1371/journal.pone.0280507, PubMed 36706086

Osete JR, Akkouh IA, Ievglevskyi O, Vandenberghe M, de Assis DR, Ueland T, Kondratskaya E, Holen B, Szabo A, Hughes T, Smeland OB, Steen VM, Andreassen OA, Djurovic S (2023)
Transcriptional and functional effects of lithium in bipolar disorder iPSC-derived cortical spheroids
Mol Psychiatry (in press)
DOI 10.1038/s41380-023-01944-0, PubMed 36653674

Rashidieh B, Bain AL, Tria SM, Sharma S, Stewart CA, Simmons JL, Apaja PM, Duijf PHG, Finnie J, Khanna KK (2023)
Alpha-B-Crystallin overexpression is sufficient to promote tumorigenesis and metastasis in mice
Exp Hematol Oncol, 12 (1), 4
DOI 10.1186/s40164-022-00365-z, PubMed 36624493

Tsagakis I, Rayner S (2023)
An open chat with…Simon Rayner
FEBS Open Bio, 13 (2), 214-216
DOI 10.1002/2211-5463.13543, PubMed 36562681

Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S, Genomics England Research Consortium, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A et al. (2023)
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Hum Mol Genet, 32 (4), 580-594
DOI 10.1093/hmg/ddac225, PubMed 36067010