Publications

*If you are a SETBP1 parent and want a copy of any of these publications, send an email info@setbp1.org.

Latest Research Publications for SETBP1-HD

4714534 DZWV2TAQ 1 apa 5 default 1 title 778 https://www.setbp1.org/wp-content/plugins/zotpress/

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Howard, M. A., Geist, M. A., Ordemann, G. J., Kizimenko, A., Balice, D. M., Guillén, F. I., Bassey, E., Lyuboslavsky, P., & Brumback, A. C. (n.d.). Behavioral and Prefrontal Circuit Deficits in a Newly Developed Setbp1 Haploinsufficiency Mouse Model. Biological Psychiatry Global Open Science, 100666, 6(2). https://doi.org/10.1016/j.bpsgos.2025.100666

Hsu, C., Ivaniuk, A., Jimenez-Gomez, A., Brünger, T., Boßelmann, C. M., Perry, M. S., Phan, C., Arenivas, A., Oyler, H. O., Ludwig, N. N., Leu, C., & Lal, D. (2026). Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disorders. medRxiv : The Preprint Server for Health Sciences, 2026.02.03.26345484. https://doi.org/10.64898/2026.02.03.26345484

Van Niel, H., Lauretta, M., Baker, E., O'Donnell, L., Hildebrand, M. S., Amor, D. J., & Morgan, A. T. (2026). Childhood motor speech disorders: who to prioritise for genetic testing. European Journal of Human Genetics. https://doi.org/10.1038/s41431-025-01993-9

Mitchel, M. W., Oetjens, M., Berry, A. S. F., Johns, A., Moreno-De-Luca, A., Torene, R. I., Strande, N. T., DiStefano, M. T., Dyer, L. H., Brandt, T., Finucane, B. M., Ledbetter, D. H., Retterer, K., Martin, C. L., & Myers, S. M. (2025). Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing. Genetics in Medicine, 27(4).

Pan, J., Zhang, Y., Jiang, L., & Liu, H. (2025). Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay. Frontiers in Genetics, 16. https://doi.org/10.3389/fgene.2025.1637931

Latest Research Publications for SETBP1-RD

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Wong, M. M. K., & Kampen, R. A. (2025). SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder. Nature Communications, 16(1), 9021. https://doi.org/10.1038/s41467-025-64074-x

Liu, L., Feng, X., & Liu, S. (2022). Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1. Frontiers in Neuroscience, (16), 980000.

Leonardi, E., Bettella, E., Pelizza, M. F., Aspromonte, M. C., Polli, R., Boniver, C., Sartori, S., Milani, D., & Murgia, A. (2020). Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With Developmental and Epileptic Encephalopathy. Frontiers in Neurology, (11), 5934–5946.

Latest Research Publications for SETBP1 gene

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Whitlock, J. H., Wilk, E. J., Howton, T. C., Clark, A. D., & Lasseigne, B. (2024). The landscape of SETBP1 gene expression and transcription factor activity across human tissues. 19(1), e0296328. https://doi.org/10.1371/journal.pone.0296328

Antonyan, L., & Ernst, C. (2022). Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development. Frontiers in Neuroscience, 16(813430).

Kohyanagi, N., & Ohama, T. (2023). The impact of SETBP1 mutations in neurological diseases and cancer. Genes to Cells.

Rakhlin, N., Landi, N., Lee, M., Magnuson, J. S., Naumova, O. Y., Ovchinnikova, I. V., & Grigorenko, E. L. (2020). Cohesion of Cortical Language Networks During Word Processing Is Predicted by a Common Polymorphism in the SETBP1 Gene. New Directions for Child and Adolescent Development, 2020(169).

Perdue, M. V., SaraMascheretti, S., Sergey A.Kornilov, S. A. K., Jasińska, K. K., Ryherd, K., Mencl, W. E., Frost, S. J., Grigorenko, E. L., Pugh, K. R., & Landi, N. (2018). Common variation within the SETBP1 gene is associated with reading-related skills and patterns of functional neural activation. Neuropsychologia.

Research Publications for Schinzel-Giedion Syndrome (SGS)

4714534 93ZFM8JM 1 apa 5 default 1 title 778 https://www.setbp1.org/wp-content/plugins/zotpress/

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Duis, J., Agresta, L., Wilhelmsen, A., & Summerfield, N. (2025). International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study. e64015.

Beaman, G. M., Jarvis, B. W., Goyal, A., Woolf, A. S., & Newman, W. G. (2025). Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation. Frontiers in Pediatrics, 13.

Whitlock, J. H., Soelter, T. M., Howton, T. C., Wilk, E. J., Oza, V. H., & Lasseigne, B. N. (2023). Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1S858R Schinzel Giedion Syndrome mice. 27(22), 3565–3577. https://doi.org/10.1111/jcmm.18001

Zheng, J., Gu, M., & Xu, X. (2024). Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature. BMC Pediatrics, (24), 309.

Carvalho, E., Honjo, R., Magalha˜es, M., Chong, K., & Bertol, D. (2014). Schinzel–Giedion Syndrome in Two Brazilian Patients: Report of a Novel Mutation in SETBP1 and Literature Review of the Clinical Features. American Journal of Medical Genetics, Part A(167A), 1039–1046.

Read More on Schinzel-Giedion Syndrome (SGS) > (overexpression of SETBP1)

Research Publications for SETBP1-related cancer (not associated with SETBP1-HD)

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Piazza, R., Magistroni, V., Redaelli, S., Mauri, M., Massimino, L., Sessa, A., Peronaci, M., Lalowski, M., Soliymani, R., Mezzatesta, C., Pirola, A., Banfi, F., Rubio, A., Rea, D., Stagno, F., Usala, E., Martino, B., Campiotti, L., Merli, M., … Gambacorti-Passerini, C. (2018). SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub. Nature Communications, 9(2192).

Stieglitz, E., Troup, C. B., Gelston, L. C., Haliburton, J., Chow, E. D., Yu, K. B., Akutagawa, J., Taylor-Weiner, A. N., Liu, Y. L., Wang, Y., Beckman, K., Emanuel, P. D., Braun, B. S., Abate, A., Gerbing, R. B., Alonzo, T. A., & Loh, M. L. (2015). Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. Blood, 125(3), 516–524.

Read More on SETBP1-related cancer > (not associated with SETBP1-HD)