Bassem A. Bejjani
Crystal Technology and Industries (United States)(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Glaucoma and retinal disorders, Prenatal Screening and Diagnostics, Congenital heart defects research
Most-Cited Works
- → Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations(2009)527 cited
- → Detection of low‐level mosaicism by array CGH in routine diagnostic specimens(2006)359 cited
- → Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia(1998)323 cited
- → Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome(2010)317 cited
- → Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication(2008)305 cited
- → Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus(2000)253 cited
- → Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases(2006)251 cited
- → Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2(2007)250 cited
- → The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future(2007)233 cited
- → Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications(2009)206 cited