1. COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing
   Aileen M. Barnes et al, 2019, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease CrossRef
2. Clinical value of genetic analysis in prenatal diagnosis of short femur
   Jialiu Liu et al, 2019, Molecular Genetics & Genomic Medicine CrossRef
3. Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I
   Yuting Zeng et al, 2021, Frontiers in Genetics CrossRef
4. A feature-based analysis identifies COL1A2 as a regulator in pancreatic cancer
   Jie Wu et al, 2019, Journal of Enzyme Inhibition and Medicinal Chemistry CrossRef
5. Anesthetic management of ventricular-peritoneal shunt implantation in osteogenesis imperfecta type IIB
   Mayumi To et al, 2022, Medicine CrossRef
6. A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2
   Wandee Udomchaiprasertkul et al, 2020, European Journal of Medical Genetics CrossRef
7. Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen
   Peikai Chen et al, 2022, Frontiers in Genetics CrossRef
8. Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system
   Lu-Jiao Li et al, 2019, Chinese Medical Journal CrossRef
9. Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta
   Lei Xi et al, 2021, Journal of Bone and Mineral Metabolism CrossRef
10. Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes
    Francesco Paduano et al, 2023, Frontiers in Endocrinology CrossRef
11. SOX2Mediates Carbon Nanotube-Induced Fibrogenesis and Fibroblast Stem Cell Acquisition
    Chayanin Kiratipaiboon et al, 2020, ACS Biomaterials Science & Engineering CrossRef
12. Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta
    Hao Zhang et al, 2018, International Journal of Molecular Medicine CrossRef
13. Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review
    Sanne Treurniet et al, 2022, Acta Ophthalmologica CrossRef
14. Genotypic and Phenotypic Characteristics of 29 Patients With Rare Types of Osteogenesis Imperfecta: Average 5 Years of Follow-Up
    Lei Xi et al, 2021, Frontiers in Genetics CrossRef
15. Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta
    Yazhao Mei et al, 2022, Frontiers in Endocrinology CrossRef