1. Bersani, Iliana, Ronci, Sara, Savarese, Immacolata, Longo, Daniela, Campi, Francesca. 2024. COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review. In Frontiers in pediatrics, 12, 1417873. doi:10.3389/fped.2024.1417873. https://pubmed.ncbi.nlm.nih.gov/38978838/
2. Dachy, Guillaume, Fraitag, Sylvie, Boulouadnine, Boutaina, Cordi, Sabine, Demoulin, Jean-Baptiste. 2021. Novel COL4A1-VEGFD gene fusion in myofibroma. In Journal of cellular and molecular medicine, 25, 4387-4394. doi:10.1111/jcmm.16502. https://pubmed.ncbi.nlm.nih.gov/33830670/
3. Meuwissen, Marije E C, Halley, Dicky J J, Smit, Liesbeth S, de Vries, Linda S, Mancini, Grazia M S. 2015. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. In Genetics in medicine : official journal of the American College of Medical Genetics, 17, 843-53. doi:10.1038/gim.2014.210. https://pubmed.ncbi.nlm.nih.gov/25719457/
4. Guey, Stéphanie, Hervé, Dominique. 2022. Main features of COL4A1-COL4A2 related cerebral microangiopathies. In Cerebral circulation - cognition and behavior, 3, 100140. doi:10.1016/j.cccb.2022.100140. https://pubmed.ncbi.nlm.nih.gov/36324412/
5. Coste, Thibault, Vincent-Delorme, Catherine, Stichelbout, Morgane, Gould, Douglas B, Tournier-Lasserve, Elisabeth. 2022. COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage. In Prenatal diagnosis, 42, 601-610. doi:10.1002/pd.6113. https://pubmed.ncbi.nlm.nih.gov/35150448/
6. Zhu, Dan, Li, Peng, Wang, Li, He, Yuan, Zhang, Hui-Zi. 2023. Aberrant expression of COL4A1 in age-related cataract and its effect on cell proliferation, apoptosis and gene expression changes. In International journal of ophthalmology, 16, 333-341. doi:10.18240/ijo.2023.03.01. https://pubmed.ncbi.nlm.nih.gov/36935791/
7. Shukla, Neha, Kumari, Shivani, Verma, Poornima, Ansari, M S, Gautam, Naveen Kumar. 2023. Genotypic Analysis of COL4A1 Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study. In DNA and cell biology, 42, 541-547. doi:10.1089/dna.2023.0125. https://pubmed.ncbi.nlm.nih.gov/37540089/