Clayton-Smith, Jill

Top Publications

Top Publications Authored or Co-Authored by "Clayton-Smith, Jill"

• Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

  Nature Genetics, Volume 37, No. 3, Year 2005, Citations 222
• 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
• Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

  American Journal of Human Genetics, Volume 77, No. 2, Year 2005, Citations 114
• Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

  European Journal of Human Genetics, Volume 20, No. 6, Year 2012, Citations 102
• Chromosome 7p disruptions in Silver Russell syndrome: Delineating an imprinted candidate gene region.

  Human Genetics, Volume 111, No. 4-5, Year 2002, Citations 83