Byers, Peter H.

Top Publications

Top Publications Authored or Co-Authored by "Byers, Peter H."

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

  American Journal of Human Genetics, Volume 86, No. 3, Year 2010, Citations 298
• WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

  American Journal of Human Genetics, Volume 92, No. 4, Year 2013, Citations 187
• Mutations in FKBp10, which result in bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

  Human Molecular Genetics, Volume 22, No. 1, Article dds371, Year 2013, Citations 123
• A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

  Genetics in Medicine, Volume 24, No. 7, Year 2022, Citations 100
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

  npj Genomic Medicine, Volume 8, No. 1, Article 4, Year 2023, Citations 100