Superti-Furga, Andrea

Top Publications

Top Publications Authored or Co-Authored by "Superti-Furga, Andrea"

• LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

  Cell, Volume 107, No. 4, Year 2001, Citations 1900
• Exome sequencing and the management of neurometabolic disorders

  New England Journal of Medicine, Volume 374, No. 23, Year 2016, Citations 259
• Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13

  American Journal of Human Genetics, Volume 59, No. 1, Year 1996, Citations 230
• 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
• Identification of mutations in CUL7 in 3-M syndrome

  Nature Genetics, Volume 37, No. 10, Year 2005, Citations 170