• A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing
• A new recessive syndrome of unusual facies and multiple structural abnormalities
• A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction
• Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing
• Heredity and dysmorphic syndromes in congenital limb deficiencies
• Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features
• Maternal risk factors predicting child physical characteristics and dysmorphology in fetal alcohol syndrome and partial fetal alcohol syndrome
• Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
• Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple c
• SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition
• Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome
• The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant
• Unbalanced 13;18 translocation and Williams syndrome
• Variants in NAA15 cause pediatric hypertrophic cardiomyopathy