1. Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Bezieau, Stéphane, Cogné, Benjamin. 2022. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder. In Genetics in medicine : official journal of the American College of Medical Genetics, 24, 1774-1780. doi:10.1016/j.gim.2022.04.011. https://pubmed.ncbi.nlm.nih.gov/35567594/
2. Xu, Shaohai, Lai, Soak-Kuan, Sim, Donald Yuhui, Li, Hoi Yeung, Roca, Xavier. . SRRM2 organizes splicing condensates to regulate alternative splicing. In Nucleic acids research, 50, 8599-8614. doi:10.1093/nar/gkac669. https://pubmed.ncbi.nlm.nih.gov/35929045/
3. Ilik, İbrahim Avşar, Malszycki, Michal, Lübke, Anna Katharina, Meierhofer, David, Aktaş, Tuğçe. 2020. SON and SRRM2 are essential for nuclear speckle formation. In eLife, 9, . doi:10.7554/eLife.60579. https://pubmed.ncbi.nlm.nih.gov/33095160/
4. Zhang, Tao, Xu, Lei, Zhu, Hongdan, Jin, Xin, Xia, Guiyu. 2023. Familial and genetic association with neurodevelopmental disorders caused by a heterozygous variant in the SRRM2 gene. In Frontiers in endocrinology, 14, 1240168. doi:10.3389/fendo.2023.1240168. https://pubmed.ncbi.nlm.nih.gov/37621647/
5. Tanaka, Hikari, Kondo, Kanoh, Chen, Xigui, Fujita, Kyota, Okazawa, Hitoshi. 2018. The intellectual disability gene PQBP1 rescues Alzheimer's disease pathology. In Molecular psychiatry, 23, 2090-2110. doi:10.1038/s41380-018-0253-8. https://pubmed.ncbi.nlm.nih.gov/30283027/
6. Tomsic, Jerneja, He, Huiling, Akagi, Keiko, Blencowe, Benjamin J, de la Chapelle, Albert. 2015. A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition. In Scientific reports, 5, 10566. doi:10.1038/srep10566. https://pubmed.ncbi.nlm.nih.gov/26135620/
7. Carvalho, Silvia, Zea-Redondo, Luna, Tang, Tsz Ching Chloe, Grosso, Ana Rita, Pombo, Ana. 2024. SRRM2 splicing factor modulates cell fate in early development. In Biology open, 13, . doi:10.1242/bio.060415. https://pubmed.ncbi.nlm.nih.gov/38656788/