2025
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4. Romero, C., de Leeuw, C., Schipper, M., de A.P.C. Maciel, B., van de Heuvel, M.P., et al. Immune-Developmental Processes Contribute to Schizophrenia Risk: Insights From a Genetic Overlap Study With Height. Biol Psychiatry, S0006-3223(25)01018-2; doi: https://doi.org/10.1016/j.biopsych.2025.02.902 (2025).
5. Schipper, M., de Leeuw, C.A., de A.P.C. Maciel, B., Wightman, D.P., et al. Prioritizing effector genes at trait-associated loci using multimodal evidence. Nat Genetics, 57(2):323-333. doi: https://doi.org/10.1038/s41588-025-02084-7 (2025).
6. Verlaan, T., Bouland, G.A., Mahfouz, A., Reinders, M.J.T. scAGG: Sample-level embedding and classification of Alzheimer’s disease from single-nucleus data, Comput Struct Biotechnol J., 27:3753-3761; doi: https://10.1016/j.csbj.2025.08.009 (2025).
2024
1. Abdelaal, T., Grossouw, L.M., Pasterkamp, R.J., Lelieveldt, B.P.F., et al. SIRV: spatial inference of RNA velocity at the single-cell resolution. NAR Genom Bioinform. 6(3):lqae100; doi: https://doi.org/10.1093/nargab/lqae100 (2024).
2. André, T., van Berkel, A.A., Singh, G., Abualrous, E.T., et al. Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction. Biol Psychiatry, 92(2):125-136; doi: https://doi.org/10.1016/j.biopsych.2024.03.007 (2024).
3. Basu, S., Eggermont, J., Kroes, T., Jorstad, N., et al. Cytosplore Simian Viewer: Visual Exploration for Multi-Species Single-Cell RNA Sequencing Data. In Eurographics Workshop on Visual Computing in Biology and Medicine, 111–120; doi: https://doi.org/10.2312/vcbm.20231219 (2024).
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14. Michielsen, L., Hsu, J., Joglekar, A., Belchikov, N., et al. Predicting cell-type-specific exon inclusion in the human brain reveals more complex splicing mechanisms in neurons than glia. bioRxiv [preprint]; doi: https://doi.org/10.1101/2024.03.18.585465 (2024).
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16. Romero C., Leeuw, C. de, Schipper, M., Maciel, B. de A. P. C., et al. Immune-developmental processes contribute to schizophrenia risk: insights from a genetic overlap study. medRxiv [preprint]; doi: https://doi.org/10.1101/2024.04.10.24305626 (2024).
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20. Wightman, D. P., Maciel, B. de A. P. C., Brouwer, R. M., van den Heuvel, M. P., Posthuma, D. Rare variant aggregation highlights rare disease genes associated with brain volume variation. medRxiv [preprint]; doi: https://doi.org/10.1101/2024.09.26.24314187 (2024).
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23. Zeller, P., Blotenburg, M., Bhardwaj, V., de Barbanson, B.A., et al. T-ChIC: multi-omic detection of histone modifications and full-length transcriptomes in the same single cell. BioRxiv [Preprint]; doi: https://doi.org/10.1101/2024.05.09.593364 (2023).
2023
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6. Bouland, G.A., Marinus, K.I., Van Kesteren, R.E., Smit, A.B., et al. Single-cell RNA sequencing data reveals rewiring of transcriptional relationships in Alzheimer’s Disease associated with risk variants. medRxiv [preprint]; doi: https://doi.org/10.1101/2023.05.15.23289992 (2023).
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12. Goedhoop, J., Arbab, T., Willuhn, I. Anticipation of Appetitive Operant Action Induces Sustained Dopamine Release in the Nucleus Accumbens, J Neurosci. 43(21):3922-3932; doi: https://doi.org/10.1523/JNEUROSCI.1527-22.2023 (2023).
13. Gribaudo, S., Robert, R., van Sambeek, B., Mirdass, C., et al. Self-organizing models of human trunk organogenesis recapitulate spinal cord and spine co-morphogenesis. Nat Biotechnol. 42(8):1243-1253; doi: https://doi.org/10.1038/s41587-023-01956-9 (2023).
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15. Jorstad, N.L., Song, J.H.T., Exposit-Alonso, D., Suresh, H., et al. Comparative transcriptomics reveals human-specific cortical features. Science 382(6667):eade9516; doi: https://doi.org/10.1126/science.ade9516 (2023).
16. Koutlas, I., Linders, L.E., Van der Starre, S.E., Wolterink-Donselaar, I.G., et al. Characterizing and TRAPing a social stress-activated neuronal ensemble in the ventral tegmental area. Front Behav Neurosci. 16:936087. doi: https://doi.org/10.3389/fnbeh.2022.936087 (2023).
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2022
1. Bruinsma, B., Pattij, T., Mansvelder, H.D. Prefrontal cortical to mediodorsal thalamus projection neurons regulate post-error adaptive control of behavior. eNeuro 9:ENEURO.0254-22.2022; doi: https://doi.org/10.1523/ENEURO.0254-22.2022 (2022).
3. Donega, V., van der Geest, A.T., Sluijs, J.A., van Dijk, R.E. et al. Single-cell profiling of human subventricular zone progenitors identifies SFRP1 as a target to re-activate progenitors. Nat Commun. 13:1036; doi: https://doi.org/1038/s41467-022-28626-9 (2022).
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12. Linders, L.E., Patrikiou, L., Soiza-Reilly, M., Schut, E.H.S. et al. Stress-driven potentiation of lateral hypothalamic synapses onto ventral tegmental area dopamine neurons causes increased consumption of palatable food. Nat Commun. 13:6898; https://doi.org/10.1038/s41467-022-34625-7 (2022).
13. Montalban, E., Giralt, A., Taing, L., Schut, E., et al. Translational profiling of mouse dopaminoceptive neurons reveals region-specific gene expression, exon usage, and striatal prostaglandin E2 modulatory effects. Mol Psychiatry 27(4):2068-2079; doi: https://doi.org/10.1038/s41380-022-01439-4 (2022). Self-archived version available through the HAL open access database.
14. Olislagers, M., Rademaker, K., Adan, R.A.H., Lin, B.D., Luykx, J.J. Comprehensive analyses of RNA-seq and genome-wide data point to enrichment of neuronal cell type subsets in neuropsychiatric disorders. Mol. Psychiatry 27(2):947-955; doi: https://doi.org/10.1038/s41380-021-01324-6 (2022).
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17. Tielbeek, J.J., Uffelmann, E., Williams, B.S., Colodro-Conde, L., Gagnon, É. et al. Uncovering the genetic architecture of broad antisocial behavior through a genome-wide association study meta-analysis. Mol Psychiatry 7(11):4453-4463; doi: https://doi.org/10.1038/s41380-022-01793-3 (2022).
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2021
1. Aevermann, B.D., Zhang, Y., Novotny, M., Keshk, M., et al. A machine learning method for the discovery of minimum marker gene combinations for cell-type identification from single-cell RNA sequencing. Genome Res. 31(10):1767-1780; doi: https://doi.org/10.1101/gr.275569.121 (2021).
2. Bakken, T.E., Jorstad, N.L., Hu, Q., Lake, B.B., et al. Comparative cellular analysis of motor cortex in human, marmoset and mouse. Nature 598(7879):111-119; doi: https://doi.org/10.1038/s41586-021-03465-8 (2021).
3. Berg, J., Sorensen, S.A., Ting, J.T., Miller, J.A. et al. Human neocortical expansion involves glutamergic neuron diversification. Nature 598(7879):151-158; doi: https://doi.org/10.1038/s41586-021-03813-8 (2021).
4. Bouland, G.A., Mahfouz, A., Reinders, M.J.T. Differential analysis of binarized single-cell RNA sequencing data captures biological variation. NAR Genom Bioinform. 3:lqab118; 10.1093/nargab/lqab118 (2021).
5. Keo, A., Dzyubachyk, O., van der Grond, J., Hafkemeijer, A. et al. Cingulate networks associated with gray matter loss in Parkinson’s disease show high expression of cholinergic genes in the healthy brain. Euro J Neurosci. 53(11):3727-3739; doi: https://doi.org/10.1111/ejn.15216 (2021)
6. de Kloet, S.F., Bruinsma, B., Terra, H., Heistek, T.S. et al. Bi-directional regulation of cognitive control by distinct prefrontal cortical output neurons to thalamus and striatum. Nat Commun. 12(1):1994; doi: https://doi.org/10.1038/s41467-021-22260-7 (2021).
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2020
1. Abdelaal, T., de Raadt, P., Lelieveldt, B.P.F., Reinders, M.J.T, Mahfouz A. SCHNEL: scalable clustering of high dimensional single-cell data. Bioinformatics 36:i849-i856; doi: https://doi.org/10.1093/bioinformatics/btaa816 (2020).
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