Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing

Genetic heterogeneity in osteogenesis imperfecta.

David Sillence, A Senn, D. M. Danks · Journal of Medical Genetics · 1979 · 2.2K citations · Full text

Medicine, Genetics, Bone Metabolism +16

Summarizing and correcting the GC content bias in high-throughput sequencing

Yuval Benjamini, Terence P. Speed · Nucleic Acids Research · 2012 · 985 citations · Full text

Life Sciences, Biology, Genetics +17

Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease

Francis H. Glorieux, Frank Rauch, Horacio Plotkin et al. · Journal of Bone and Mineral Research · 2000 · 517 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +12

[Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years].

Hui Li, Cheng-ye Ji, Xinnan Zong et al. · PubMed · 2009 · 455 citations

Public Health, Child Health, Pediatrics +17

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott et al. · The American Journal of Human Genetics · 2010 · 359 citations · Full text

Medicine, Genetics, Molecular Genetics +14