1. De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review
   Cristina Gug et al, 2020, Frontiers in Pediatrics CrossRef
2. CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney
   Cristina Gug et al, 2020, Experimental and Therapeutic Medicine CrossRef