Shawna M. Pyott

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 · 354 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +6

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho et al. · The American Journal of Human Genetics · 2010 · 312 citations · Full text

Sclerostin, Developmental Biology, Bone Morphogenic Protein +7

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Shawna M. Pyott, Thao Tran, Dru F. Leistritz et al. · The American Journal of Human Genetics · 2013 · 205 citations · Full text

Bone Disease, Moderately Severe, Developmental Biology +9

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

U. Schwarze, Tim Cundy, Shawna M. Pyott et al. · Human Molecular Genetics · 2012 · 137 citations · Full text

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Shawna M. Pyott, Ulrike Schwarze, Helena E. Christiansen et al. · Human Molecular Genetics · 2011 · 134 citations · Full text

Genetics, Osteogenesis, Molecular Genetics +19