Marlin, Sandrine

Top Publications

Top Publications Authored or Co-Authored by "Marlin, Sandrine"

• Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene

  Human Molecular Genetics, Volume 6, No. 12, Year 1997, Citations 646
• 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
• Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

  Human Mutation, Volume 29, No. 10, Year 2008, Citations 100
• Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

  Human Mutation, Volume 14, No. 5, Year 1999, Citations 83
• The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

  EMBO Molecular Medicine, Volume 6, No. 7, Year 2014, Citations 53