Fallet-Bianco, Catherine

Top Publications

Top Publications Authored or Co-Authored by "Fallet-Bianco, Catherine"

• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

  Journal of Medical Genetics, Volume 59, No. 6, Year 2022, Citations 91
• Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

  Journal of Clinical Investigation, Volume 120, No. 10, Year 2010, Citations 88
• Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)

  American Journal of Human Genetics, Volume 86, No. 3, Year 2010, Citations 56
• Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

  European Journal of Human Genetics, Volume 24, No. 4, Year 2016, Citations 36
• Fowler syndrome - A clinical, radiological, and pathological study of 14 cases

  American Journal of Medical Genetics, Part A, Volume 152, No. 1, Year 2010, Citations 15