Bessières, Bettina

Top Publications

Top Publications Authored or Co-Authored by "Bessières, Bettina"

• TCTN3 mutations cause Mohr-Majewski syndrome

  American Journal of Human Genetics, Volume 91, No. 2, Year 2012, Citations 137
• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

  Journal of Medical Genetics, Volume 59, No. 6, Year 2022, Citations 91
• Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

  American Journal of Human Genetics, Volume 97, No. 2, Article 1902, Year 2015, Citations 78
• 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