Cole, F. Sessions

Top Publications

Top Publications Authored or Co-Authored by "Cole, F. Sessions"

• 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
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

  npj Genomic Medicine, Volume 8, No. 1, Article 4, Year 2023, Citations 100
• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

  Brain, Volume 143, No. 8, Year 2020, Citations 100
• Population and disease-based prevalence of the common mutations associated with surfactant deficiency

  Pediatric Research, Volume 63, No. 6, Year 2008, Citations 91
• Biosynthesis of complement by human monocytes

  Clinical Immunology and Immunopathology, Volume 18, No. 3, Year 1981, Citations 35