Kathleen Yang

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Dale L. Bodian, Ting‐Fung Chan, Annie Poon et al. · Human Molecular Genetics · 2008 · 127 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

Shawna M. Pyott, Melanie Pepin, Ulrike Schwarze et al. · Genetics in Medicine · 2011 · 82 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta

Elena Makareeva, Guoli Sun, Lynn S. Mirigian et al. · PLoS ONE · 2018 · 20 citations · Full text

Life Sciences, Biochemistry, Genetics +17