Bonafé, Luisa

Top Publications

Top Publications Authored or Co-Authored by "Bonafé, Luisa"

• Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

  Nature Genetics, Volume 44, No. 3, Year 2012, Citations 246
• Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

  American Journal of Medical Genetics, Part A, Volume 152 A, No. 10, Year 2010, Citations 72
• Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

  American Journal of Human Genetics, Volume 89, No. 6, Year 2011, Citations 32
• Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

  Journal of Bone and Mineral Research, Volume 26, No. 3, Year 2011, Citations 17
• A cause of dilated cardiomyopathy in child: Primary carnitine deficiency

  Annales de Cardiologie et d'Angeiologie, Volume 63, No. 2, Year 2014, Citations 8