Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and HypotoniaElizabeth Bhoj, Håkon Håkonarson, Dong Li et al.|The American Journal of Human Genetics|2016Cited by 74
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndromeSarah E. Sheppard, Brian Hon‐Yin Chung, Ian M. Campbell et al.|American Journal of Medical Genetics Part A|2021Cited by 72
Mutations in topoisomerase IIβ result in a B cell immunodeficiencyLori Broderick, Hal M. Hoffman, Shawn Yost et al.|Nature Communications|2019Cited by 58
Mutations in <i>SPECC1L</i>, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromePaul Kruszka, Elaine H. Zackai, Dong Li et al.|Journal of Medical Genetics|2014Cited by 49
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Jessica Douglas, Margaret Harr et al.|Journal of Clinical Investigation|2023Cited by 44