Toutain, Annick M.

Top Publications

Top Publications Authored or Co-Authored by "Toutain, Annick M."

• Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

  Science, Volume 319, No. 5864, Year 2008, Citations 382
• Mutations in the pre-replication complex cause Meier-Gorlin syndrome

  Nature Genetics, Volume 43, No. 4, Year 2011, Citations 249
• TCTN3 mutations cause Mohr-Majewski syndrome

  American Journal of Human Genetics, Volume 91, No. 2, Year 2012, Citations 137
• Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

  Brain, Volume 132, No. 7, Year 2009, Citations 132
• Treacher Collins syndrome: A clinical and molecular study based on a large series of patients

  Genetics in Medicine, Volume 18, No. 1, Year 2016, Citations 119