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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Morgan, A., Braden, R., Wong, M. M. K., Collin, E., Amor, D., Liegeois, F., Srivastava, S., Vogel, A., Bizaoui, V., Ranguin, K., Fisher, S. E., & van Bon, B. W. (2021). Speech and language deﬁcits are central to SETBP1 haploinsufﬁciency disorder (SETBP1-HD). European Journal of Human Genetics, 29(29), 1216–1225. https://doi.org/10.1038/s41431-021-00894-x

Jansen, N. A., Braden, R. O., Srivastava, S., Otness, E. F., Lesca, G., Rossi, M., Nizon, M., Bernier, R. A., Quelin, C., van Haeringen, A., Kleefstra, T., Wong, M. M. K., Whalen, S., Fisher, S. E., Morgan, A. T., & van Bon, B. W. (2021). Clinical delineation of SETBP1 haploinsufficiency disorder. European Journal of Human Genetics, 29, 1198–1205.

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).

Antonyan, L., Zhang, X., Ni, A., Peng, H., Alsuwaidi, S., Fleming, P., Zhang, Y., Semenak, A., Macintosh, J., Wu, H., Hettige, N. C., Jefri, M., & Ernst, C. (2025). Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes. Human Molecular Genetics, Epub ahead of print. https://doi.org/10.1093/hmg/ddaf003

Baker, E. K., St John, M., Braden, R., Morison, L. D., Forbes, E. J., Lelik, F., Hearps, S. J. C., Amor, D. J., & Morgan, A. T. (2025). Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders. Developmental Medicine & Child Neurology, Epub ahead of print. https://doi.org/10.1111/dmcn.16227

Latest Research Publications for SETBP1 gene

4714534 I9JAG8NK 1 apa 5 default 1 title 778 https://www.setbp1.org/wp-content/plugins/zotpress/

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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)