Caillaud, Catherine

Top Publications

Top Publications Authored or Co-Authored by "Caillaud, Catherine"

• Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

  Journal of Medical Genetics, Volume 59, No. 4, Year 2022, Citations 47
• Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

  European Journal of Medical Genetics, Volume 58, No. 12, Year 2015, Citations 40
• Leukodystrophy associated with oligodontia in a a large inbred family: Fortuitous association or new entity?

  American Journal of Medical Genetics, Volume 118 A, No. 1, Year 2003, Citations 37
• Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

  Orphanet Journal of Rare Diseases, Volume 10, No. 1, Article 31, Year 2015, Citations 32
• IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

  Journal of Medical Genetics, Volume 52, No. 10, Year 2015, Citations 30