Publications
Export 4 results:
Filters: Author is Li, He and Keyword is Phenotype [Clear All Filters]
A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 ;105(5):974-986.
. Identification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 ;7(16):4563-4575.
. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat. 2021 ;42(5):577-591.
. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 ;41(12):2094-2104.
.