Zweier, Christiane

Top Publications

Top Publications Authored or Co-Authored by "Zweier, Christiane"

• Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

  Science, Volume 319, No. 5864, Year 2008, Citations 382
• Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders

  JAMA Psychiatry, Volume 74, No. 3, Year 2017, Citations 175
• Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

  Genetics in Medicine, Volume 20, No. 9, Year 2018, Citations 80
• De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

  Journal of Medical Genetics, Volume 59, No. 10, Year 2022, Citations 72
• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

  Genetics in Medicine, Volume 25, No. 8, Article 100885, Year 2023, Citations 64