SCIENTIFIC PUBLICATIONS

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Chen, Y., Dawes, R., Kim, H.C. et al. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature 632, 832–840 (2024). https://doi.org/10.1038/s41586-024-07773-7

Chen, Y., Dawes, R., Kim, H.C. et al. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature 632, 832–840 (2024). https://doi.org/10.1038/s41586-024-07773-7

Greene, D., Thys, C., Berry, I.R. et al. Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nat Med 30, 2165–2169 (2024). https://doi.org/10.1038/s41591-024-03085-5

Greene, D., Thys, C., Berry, I.R. et al. Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nat Med 30, 2165–2169 (2024). https://doi.org/10.1038/s41591-024-03085-5

Nava, C., Cogne, B., Santini, A. et al. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. Nat Genet 57, 1374–1388 (2025). https://doi.org/10.1038/s41588-025-02184-

Nava, C., Cogne, B., Santini, A. et al. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. Nat Genet 57, 1374–1388 (2025). https://doi.org/10.1038/s41588-025-02184-4

Schot R, Ferraro F, Geeven G, Diderich KEM, Barakat TS. Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder. Clin Genet. 2024 Oct;106(4):512-517. doi: 10.1111/cge.14574. Epub

Schot R, Ferraro F, Geeven G, Diderich KEM, Barakat TS. Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder. Clin Genet. 2024 Oct;106(4):512-517. doi: 10.1111/cge.14574. Epub 2024 Jun 11. PMID: 38859706

Burns VF, Radford EJ. ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder. Trends Genet. 2024;40(11):914-916. 10.1016/j.tig.2024.09.005

Burns VF, Radford EJ. ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder. Trends Genet. 2024;40(11):914-916. 10.1016/j.tig.2024.09.005

Barbour K, Bainbridge MN, Wigby K, et al. The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder. Pediatr Neurol. 2024 Dec;161:188-193. doi: 10.1016/j.pediatrneurol.2024.09.015

Barbour K, Bainbridge MN, Wigby K, et al. The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder. Pediatr Neurol. 2024 Dec;161:188-193. doi: 10.1016/j.pediatrneurol.2024.09.015

De Jonghe J, Kim HC, Adedeji A, et al. Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders. medRxiv. 2025 Apr 10:2025.04.08.25325442. doi: 10.1101/2025.04.08.25325442

De Jonghe J, Kim HC, Adedeji A, et al. Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders. medRxiv. 2025 Apr 10:2025.04.08.25325442. doi: 10.1101/2025.04.08.25325442

Haas, H. , Strom, S. , Kesari, A. , et al. (2025) A Rare Case of Osteosarcoma in an Individual with the Recurrent n.64_65insT Variant in the RNU4-2 Gene. Case Reports in Clinical Medicine, 14, 504-508. doi: 10.4236/crcm.2025.149064

Haas, H. , Strom, S. , Kesari, A. , et al. (2025) A Rare Case of Osteosarcoma in an Individual with the Recurrent n.64_65insT Variant in the RNU4-2 Gene. Case Reports in Clinical Medicine, 14, 504-508. doi: 10.4236/crcm.2025.149064

Di Letto, P., De Leonibus, C., Palmieri, et al. (2025). Reanalysis of undiagnosed neurodevelopmental disorder cases: From RNU4-2 variants to clinical phenotypes. Neurology: Genetics, 11(6), e200312. https://doi.org/10.1212/NXG.0000000000200312

Di Letto, P., De Leonibus, C., Palmieri, et al. (2025). Reanalysis of undiagnosed neurodevelopmental disorder cases: From RNU4-2 variants to clinical phenotypes. Neurology: Genetics, 11(6), e200312. https://doi.org/10.1212/NXG.0000000000200312

Antonarakis, S. E. Small nuclear RNA genes in Mendelian disorders. Nat Genet (2025). https://doi.org/10.1038/s41588-025-02440-7

Antonarakis, S. E. Small nuclear RNA genes in Mendelian disorders. Nat Genet (2025). https://doi.org/10.1038/s41588-025-02440-7

Quinodoz, M., Rodenburg, K., Cvackova, Z. et al. De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. Nat Genet 58, 169–179 (2026). https://doi.org/10.1038/s41588-025-02451-4

Quinodoz, M., Rodenburg, K., Cvackova, Z. et al. De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. Nat Genet 58, 169–179 (2026). https://doi.org/10.1038/s41588-025-02451-4

Chen Y, Gao L, Han X, et al. Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies. Am J Med Genet C Semin Med Genet. 2025 Dec 25. doi: 10.1002/ajmgc.70002. Epub ahead of print. PMID: 41449851.

Chen Y, Gao L, Han X, et al. Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies. Am J Med Genet C Semin Med Genet. 2025 Dec 25. doi: 10.1002/ajmgc.70002. Epub ahead of print. PMID: 41449851.

William Morello, Greta Armaroli, Donatella Milani, et al. ReNU Syndrome due to a de novo RNU4-2 Variant as a Novel Genetic Cause of Proteinuria, Kidney Medicine, Volume 8, Issue 2, 2026, 101202, ISSN 2590-0595, https://doi.org/10.1016/j.xkme.2025.101

William Morello, Greta Armaroli, Donatella Milani, et al. ReNU Syndrome due to a de novo RNU4-2 Variant as a Novel Genetic Cause of Proteinuria, Kidney Medicine, Volume 8, Issue 2, 2026, 101202, ISSN 2590-0595, https://doi.org/10.1016/j.xkme.2025.101202.