Thauvin-Robinet, Christel

Top Publications

Top Publications Authored or Co-Authored by "Thauvin-Robinet, Christel"

• TCTN3 mutations cause Mohr-Majewski syndrome

  American Journal of Human Genetics, Volume 91, No. 2, Year 2012, Citations 137
• X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

  Nature Communications, Volume 8, Article 14279, Year 2017, Citations 124
• The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

  Nature Genetics, Volume 46, No. 8, Year 2014, Citations 115
• Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

  American Journal of Human Genetics, Volume 110, No. 8, Year 2023, Citations 68
• Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

  Clinical Genetics, Volume 84, No. 6, Year 2013, Citations 61