1. Singh, Swati, Shah, Hitesh, Dalal, Ashwin, Bhavani, Gandham SriLakshmi, Girisha, Katta M. 2024. Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. In American journal of medical genetics. Part A, 194, e63601. doi:10.1002/ajmg.a.63601. https://pubmed.ncbi.nlm.nih.gov/38562122/
2. Waddell, David S, Duffin, Paige J, Haddock, Ashley N, Kakareka, Karina M, Eldredge, John T. 2015. Isolation, expression analysis and characterization of NEFA-interacting nuclear protein 30 and RING finger and SPRY domain containing 1 in skeletal muscle. In Gene, 576, 319-32. doi:10.1016/j.gene.2015.10.046. https://pubmed.ncbi.nlm.nih.gov/26497270/
3. Imren, Gozde, Karaosmanoglu, Beren, Muratoglu, Bihter, Simsek-Kiper, Pelin Ozlem, Taskiran, Ekim Z. 2025. Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia. In International journal of molecular sciences, 26, . doi:10.3390/ijms26031134. https://pubmed.ncbi.nlm.nih.gov/39940902/
4. Faden, Maha, AlZahrani, Fatema, Mendoza-Londono, Roberto, Boycott, Kym, Alkuraya, Fowzan S. 2015. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. In American journal of human genetics, 97, 608-15. doi:10.1016/j.ajhg.2015.08.007. https://pubmed.ncbi.nlm.nih.gov/26365341/
5. Zhu, Yingjia, Cheng, Feng, Zhu, Linling, He, Mingjie, Wang, Wenhui. 2025. Identification of potential diagnostic biomarkers and drug targets for endometriosis from a genetic perspective: a mendelian randomization study. In Gynecologic and obstetric investigation, , 1-22. doi:10.1159/000543707. https://pubmed.ncbi.nlm.nih.gov/39978332/
6. Yamamoto, Toshiyuki, Shimojima, Keiko, Yamazaki, Sawako, Ikeno, Kanju, Tohyama, Jun. . A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features. In Congenital anomalies, 56, 253-255. doi:10.1111/cga.12172. https://pubmed.ncbi.nlm.nih.gov/27230627/