1. Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome
    I-Chun Tsai et al, 2018, Sci Rep CrossRef
  2. Whole exome sequencing unraveled the mystery of neurodevelopmental disorders in three Iranian families
    Zeinab Ravesh et al, 2018, Gene Reports CrossRef
  3. Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
    Huakun Shangguan et al, 2019, Orphanet J Rare Dis CrossRef
  4. The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series
    Yirou Wang et al, 2019, Am J Med Genet CrossRef
  5. Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome
    Christina Theodore-Oklota et al, 2020, Am J Med Genet CrossRef
  6. No difference in the proteome of racially and geometrically classified scalp hair sample from a South African cohort: Preliminary findings
    Henry A. Adeola et al, 2020, Journal of Proteomics CrossRef
  7. A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada
    Christina Theodore-Oklota et al, 2021, Adv Ther CrossRef
  8. Bate palmas mutant mice as a model of Kabuki syndrome: Higher susceptibility to infections and vocalization impairments?
    Thiago B. Kirsten et al, 2022, J of Neuroscience Research CrossRef
  9. Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A
    Mehrnoosh Khodaeian et al, 2021, Mol Syndromol CrossRef
  10. From Genotype to Phenotype—A Review of Kabuki Syndrome
    Kelly K. Barry et al, 2022, Genes CrossRef
  11. Role of histone methyltransferase KMT2D in BMSC osteogenesis via AKT signaling
    Zhichun Zhang et al, 2024, Regenerative Therapy CrossRef