1. Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication
   Roberta Milone et al, 2016, European Journal of Medical Genetics CrossRef
2. A Path to Implement Precision Child Health Cardiovascular Medicine
   Marlin Touma et al, 2017, Front. Cardiovasc. Med. CrossRef
3. A clinical and molecular analysis of a patient with Emanuel syndrome
   Jin-Wen Luo et al, 2017 CrossRef
4. High-resolution single nucleotide polymorphism arrays identified an atypical microdeletion of the Williams-Beuren syndrome interval in a patient presenting with a different phenotype
   Shijun Hu et al, 2017 CrossRef
5. A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel’s deformity
   Shuai Guo et al, 2018, Mol Cytogenet CrossRef
6. SNP Array as a Tool for Prenatal Diagnosis of Congenital Heart Disease Screened by Echocardiography: Implications for Precision Assessment of Fetal Prognosis
   Hailong Huang et al, 2021, RMHP CrossRef
7. Identification of 1q21.1 microduplication in a family: A case report
   Ting-Ting Huang et al, 2023, World J Clin Cases CrossRef
8. Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
   Alexia Bourgois et al, 2023, American J of Med Genetics Pt A CrossRef
9. Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
   Nan Guo et al, 2023, BMC Med Genomics CrossRef