Schaefer, Élise

Top Publications

Top Publications Authored or Co-Authored by "Schaefer, Élise"

• 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
• Mutation spectrum in the large gtpase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

  Human Mutation, Volume 33, No. 6, Year 2012, Citations 116
• KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

  Brain, Volume 143, No. 11, Year 2020, Citations 100
• New insights into genotype-phenotype correlation for GLI3 mutations

  European Journal of Human Genetics, Volume 23, No. 1, Year 2015, Citations 90
• Arterial tortuosity syndrome: 40 new families and literature review

  Genetics in Medicine, Volume 20, No. 10, Year 2018, Citations 67