1. Wu, Dong, Zhang, Li, Qiang, Yuzhen, Wang, Kaiyu. 2022. Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum. In PloS one, 17, e0269029. doi:10.1371/journal.pone.0269029. https://pubmed.ncbi.nlm.nih.gov/36512530/
2. Sera, Yukihiro, Yamamoto, Sakura, Mutou, Akane, Imanaka, Tsuneo, Yamaguchi, Masafumi. . SBDS Gene Mutation Increases ROS Production and Causes DNA Damage as Well as Oxidation of Mitochondrial Membranes in the Murine Myeloid Cell Line 32Dcl3. In Biological & pharmaceutical bulletin, 47, 1376-1382. doi:10.1248/bpb.b24-00088. https://pubmed.ncbi.nlm.nih.gov/39085077/
3. Lindsley, R Coleman, Saber, Wael, Mar, Brenton G, Neuberg, Donna, Ebert, Benjamin L. . Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation. In The New England journal of medicine, 376, 536-547. doi:10.1056/NEJMoa1611604. https://pubmed.ncbi.nlm.nih.gov/28177873/
4. Shimamura, Akiko. . Shwachman-Diamond syndrome. In Seminars in hematology, 43, 178-88. doi:. https://pubmed.ncbi.nlm.nih.gov/16822460/
5. Sera, Yukihiro, Sadoya, Miki, Ichinose, Takashi, Imanaka, Tsuneo, Yamaguchi, Masafumi. 2022. SBDS interacts with RNF2 and is degraded through RNF2-dependent ubiquitination. In Biochemical and biophysical research communications, 598, 119-123. doi:10.1016/j.bbrc.2022.02.014. https://pubmed.ncbi.nlm.nih.gov/35158210/
6. Nakashima, Eiji, Mabuchi, Akihiko, Makita, Yoshio, Nishimura, Gen, Ikegawa, Shiro. 2004. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. In Human genetics, 114, 345-8. doi:. https://pubmed.ncbi.nlm.nih.gov/14749921/