Publications (original articles or review articles) published in 2023 from OUS - Department of Medical Genetics
11 publications found
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
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
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
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
Analysis of Spatial Molecular Data
Methods Mol Biol, 2614, 349-356
DOI 10.1007/978-1-0716-2914-7_20, PubMed 36587134
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
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
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
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
An open chat with…Simon Rayner
FEBS Open Bio, 13 (2), 214-216
DOI 10.1002/2211-5463.13543, PubMed 36562681
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