Ambry Genetics Corporation

Top Publications

Top Publications Authored or Co-Authored in "Ambry Genetics Corporation"

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

  Brain, Volume 140, No. 5, Year 2017, Citations 390
• Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

  Nature Communications, Volume 11, No. 1, Article 595, Year 2020, Citations 85
• 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
• De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 34