E H Zackai

Publications by Year

Research Areas

Genomic variations and chromosomal abnormalities, Craniofacial Disorders and Treatments, Prenatal Screening and Diagnostics, Connective tissue disorders research, Congenital heart defects research

Most-Cited Works

• → Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development(2007)228 cited
• The 22q11.2 deletion syndrome.(2001)
• → Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2(2008)86 cited
• → Cranio‐lenticulo‐sutural dysplasia associated with defects in collagen secretion(2010)78 cited
• → High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.(1993)54 cited
• → Metatropic dwarfism. Uncoupling of endochondral and perichondral growth.(1987)46 cited
• → De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.(1987)6 cited
• Constitutional Ip36 deletion in a child with neuroblastoma(1993)
• Classical Wolf-Hirschhorn Syndrome confirmed molecularly despite normal results using commercially available probes: Redefinition of critical region(1994)
• → A (14;20) translocation, unbalanced, from a subject with severe congenital anomalies(1978)1 cited