E H Zackai

Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

Michael A. Simpson, Ray C. J. Hsu, Lindsay Keir et al. · The American Journal of Human Genetics · 2007 · 228 citations · Full text

Medicine, Genetics, Molecular Genetics +15

The 22q11.2 deletion syndrome.

B S Emanuel, Donna M. McDonald‐McGinn, Sulagna C. Saitta et al. · PubMed · 2001 · 112 citations

Life Sciences, Genetics, Molecular Genetics +6

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

B. C. Ballif, Aaron Theisen, DM McDonald‐McGinn et al. · Clinical Genetics · 2008 · 86 citations

Life Sciences, Genetics, Molecular Genetics +17

Cranio‐lenticulo‐sutural dysplasia associated with defects in collagen secretion

SA Boyadjiev, S‐D Kim, Akira Hata et al. · Clinical Genetics · 2010 · 79 citations · Full text

Medicine, Genetics, Molecular Genetics +17

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

David F. Callen, Helen J. Eyre, Sharon Lane et al. · Journal of Medical Genetics · 1993 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15