ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G. Ng, Éric Vilain, Sergey A. Shiryaev et al.|Human Mutation|2016Cited by 58
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversionDavid Porubskỳ, Sarah Cody, Philip C. Dishuck et al.|Nature Communications|2026Cited by 1