Holder-Espinasse, Muriel H.

Top Publications

Top Publications Authored or Co-Authored by "Holder-Espinasse, Muriel H."

• A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

  American Journal of Medical Genetics, Part A, Volume 167, No. 3, Year 2015, Citations 70
• Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

  Human Mutation, Volume 36, No. 8, Year 2015, Citations 68
• Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

  Clinical Genetics, Volume 87, No. 3, Year 2015, Citations 50
• Novel and recurrent non-truncating mutations of the MITF basic domain: Genotypic and phenotypic variations in Waardenburg and Tietz syndromes

  European Journal of Human Genetics, Volume 20, No. 5, Year 2012, Citations 39
• Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

  Human Mutation, Volume 34, No. 4, Year 2013, Citations 39