Chao, Katherine Ru Yui

Top Publications

Top Publications Authored or Co-Authored by "Chao, Katherine Ru Yui"

• Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

  Genetics in Medicine, Volume 22, No. 9, Year 2020, Citations 99
• A form of muscular dystrophy associated with pathogenic variants in JAG2

  American Journal of Human Genetics, Volume 108, No. 5, Year 2021, Citations 58
• Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

  Nature Communications, Volume 10, No. 1, Article 797, Year 2019, Citations 30
• Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

  American Journal of Medical Genetics, Part A, Volume 182, No. 10, Year 2020, Citations 29