Martin-Coignard, Dominique

Top Publications

Top Publications Authored or Co-Authored by "Martin-Coignard, Dominique"

• 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
• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

  Journal of Medical Genetics, Volume 59, No. 6, Year 2022, Citations 91
• Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

  Human Mutation, Volume 36, No. 8, Year 2015, Citations 68
• Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

  Haematologica, Volume 99, No. 8, Year 2014, Citations 65
• Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

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