Associated Papers
CRTAP-Null Osteoblasts Have Increased Proliferation, Protein Secretion, and Skeletal Morphogenesis Gene Expression with Downregulation of Cellular Adhesion.
Barnes AM et al.
Cells, 2025
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
Shaheen R et al.
Journal of Medical Genetics, 2012
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D et al.
Human Mutation, 2008
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
Barnes AM et al.
The New England Journal of Medicine, 2006
Classification of Osteogenesis Imperfecta revisited.
Van Dijk FS et al.
European Journal of Medical Genetics, 0
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