Ige3 Institute of Genetics and Genomics of Geneva

Top Publications

Top Publications Authored or Co-Authored in "Ige3 Institute of Genetics and Genomics of Geneva"

• Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

  Human Mutation, Volume 35, No. 10, Year 2014, Citations 79
• The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

  Genome Research, Volume 23, No. 9, Year 2013, Citations 72
• Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

  Human Genomics, Volume 10, No. 1, Article 26, Year 2016, Citations 8