Scambler, Peter James

Top Publications

Top Publications Authored or Co-Authored by "Scambler, Peter James"

• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Nature Genetics, Volume 43, No. 3, Year 2011, Citations 348
• An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

  Nature Communications, Volume 7, Article 11491, Year 2016, Citations 201
• Identification of mutations in CUL7 in 3-M syndrome

  Nature Genetics, Volume 37, No. 10, Year 2005, Citations 170
• LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

  American Journal of Human Genetics, Volume 86, No. 5, Year 2010, Citations 165
• Rare variants in NR2F2 cause congenital heart defects in humans

  American Journal of Human Genetics, Volume 94, No. 4, Year 2014, Citations 147