Passemard, Sandrine

Top Publications

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

• Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

  Neurology, Volume 73, No. 12, Year 2009, Citations 114
• Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia

  American Journal of Human Genetics, Volume 94, No. 3, Year 2014, Citations 93
• 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
• Autosomal recessive primary microcephaly due to ASPM mutations: An update

  Human Mutation, Volume 39, No. 3, Year 2018, Citations 54
• VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

  European Journal of Medical Genetics, Volume 62, No. 8, Article 103704, Year 2019, Citations 12