Craigen, William James

Top Publications

Top Publications Authored or Co-Authored by "Craigen, William James"

• Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance

  American Journal of Human Genetics, Volume 93, No. 3, Year 2013, Citations 132
• 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
• Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

  Genetics in Medicine, Volume 23, No. 10, Year 2021, Citations 99
• Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 60