White, Peter S.

Top Publications

Top Publications Authored or Co-Authored by "White, Peter S."

• Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

  Nature Genetics, Volume 26, No. 4, Year 2000, Citations 273
• Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy

  Investigative Ophthalmology and Visual Science, Volume 48, No. 11, Year 2007, Citations 95
• Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function

  American Journal of Medical Genetics, Part A, Volume 146, No. 3, Year 2008, Citations 42
• Fine mapping of the Schnyder's crystalline corneal dystrophy locus

  Human Genetics, Volume 114, No. 6, Year 2004, Citations 16
• The human CDC42 gene: Genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene

  Human Genetics, Volume 105, No. 1-2, Year 1999, Citations 7