Krakow, Deborah E.

Top Publications

Top Publications Authored or Co-Authored by "Krakow, Deborah E."

• Mutations in the TGFβb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 204
• Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

  American Journal of Human Genetics, Volume 92, No. 1, Year 2013, Citations 51
• Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

  Journal of Medical Genetics, Volume 48, No. 6, Year 2011, Citations 46
• The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling

  Science Translational Medicine, Volume 10, No. 459, Article eaat9356, Year 2018, Citations 33
• Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study

  Bone, Volume 147, Article 115917, Year 2021, Citations 28