Publication & Citation Trends
Most Cited Works
Publications
83 total
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta PDF
Cited by 143
OpenAlex
Abnormal Type I Collagen Post-translational Modification and Crosslinking in a Cyclophilin B KO Mouse Model of Recessive Osteogenesis Imperfecta PDF
Cited by 126
OpenAlex
Absence of<i>FKBP10</i>in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix PDF
Cited by 100
OpenAlex
Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding PDF
Cited by 176
OpenAlex
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta
Cited by 120
OpenAlex
Research Topics
Connective tissue disorders research
(57)
Bone and Dental Protein Studies
(28)
Protease and Inhibitor Mechanisms
(11)
Dermatological and Skeletal Disorders
(9)
Bone fractures and treatments
(8)
Frequent Co-Authors
Affiliations
National Institutes of Health
National Human Genome Research Institute
Eunice Kennedy Shriver National Institute of Child Health and Human Development
Office of Extramural Research
Matrix Research (United States)