Genedx, Inc.

Top Publications

Top Publications Authored or Co-Authored in "Genedx, Inc."

• Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorze 2009

  Journal of the American Academy of Dermatology, Volume 63, No. 4, Year 2010, Citations 666
• Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

  Journal of Medical Genetics, Volume 44, No. 10, Year 2007, Citations 178
• Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly

  Nature Genetics, Volume 49, No. 10, Year 2017, Citations 146
• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Nature Communications, Volume 10, No. 1, Article 3094, Year 2019, Citations 120
• A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

  Genetics in Medicine, Volume 24, No. 7, Year 2022, Citations 100