Eng, Christine M.

Top Publications

Top Publications Authored or Co-Authored by "Eng, Christine M."

• Nature and frequency of mutations in the α-galactosidase A gene that cause fabry disease

  American Journal of Human Genetics, Volume 53, No. 6, Year 1993, Citations 218
• Fabry disease: Twenty-three mutations including sense and antisense CPG alterations and identification of a deletional hot-spot in the α-galactosidase A gene

  Human Molecular Genetics, Volume 3, No. 10, Year 1994, Citations 104
• 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