1. Al-Hamed, Mohamed H, Alsahan, Nada, Tulbah, Maha, Sayer, John A, Imtiaz, Faiqa. 2020. Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94. In Genes, 11, . doi:10.3390/genes11090967. https://pubmed.ncbi.nlm.nih.gov/32825426/
2. Stephen, Joshi, Maddirevula, Sateesh, Nampoothiri, Sheela, Gahl, William A, Malicdan, May Christine V. . Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. In American journal of human genetics, 103, 948-967. doi:10.1016/j.ajhg.2018.11.001. https://pubmed.ncbi.nlm.nih.gov/30526868/
3. Yüksel Ülker, Aylin, Uludağ Alkaya, Dilek, Çağlayan, Ahmet Okay, Vural, Mehmet, Tüysüz, Beyhan. 2023. An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant. In American journal of medical genetics. Part A, 191, 1530-1545. doi:10.1002/ajmg.a.63180. https://pubmed.ncbi.nlm.nih.gov/36919607/
4. Zhou, Yuan, Huang, Borong, Zhang, Qinqin, Yu, Yaqun, Xiao, Juan. 2024. Modeling of new markers for the diagnosis and prognosis of pancreatic cancer based on the transition from inflammation to cancer. In Translational cancer research, 13, 1425-1442. doi:10.21037/tcr-23-1365. https://pubmed.ncbi.nlm.nih.gov/38617519/
5. Moeinifar, Nafiseh, Hojati, Zohreh. 2025. Novel mutations found in genes involved in global developmental delay and intellectual disability by whole-exome sequencing, homology modeling, and systems biology. In The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry, , 1-16. doi:10.1080/15622975.2025.2453198. https://pubmed.ncbi.nlm.nih.gov/39853208/