Stoler, Joan Marilyn

Top Publications

Top Publications Authored or Co-Authored by "Stoler, Joan Marilyn"

• 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
• Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

  American Journal of Human Genetics, Volume 96, No. 5, Year 2015, Citations 65
• The facebase consortium: A comprehensive resource for craniofacial researchers

  Development (Cambridge), Volume 143, No. 14, Year 2016, Citations 58