Disease: Multiple congenital anomalies mental retardation- growth failure and cleft lip palate
- A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies
- Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome
- Case of ring chromosome 7: the first report of neuropathological findings
- De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features
- Diagnosis and fine localization of deletion region in Wolf-Hirschhorn syndrome patients
- Feeding and swallowing dysfunction in genetic syndromes
- Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients
- Interstitial deletion of chromosome 1 (q23-q25). Report of a case
- Midline defects of the orofaciodigital syndrome type VI (Váradi syndrome)
- The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series