Sznajer, Yves

Top Publications

Top Publications Authored or Co-Authored by "Sznajer, Yves"

• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

  Genetics in Medicine, Volume 22, No. 9, Year 2020, Citations 99
• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

  Human Mutation, Volume 31, No. 5, Year 2010, Citations 95
• MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement

  Human Mutation, Volume 30, No. 2, Year 2009, Citations 94
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

  European Journal of Human Genetics, Volume 21, No. 10, Year 2013, Citations 72