Ellen Magenis

Interstitial deletion of (17)(p11.2p11.2) in nine patients

Ann C. M. Smith, Loris McGavran, Jeannie Robinson et al. · American Journal of Medical Genetics · 1986 · 400 citations

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

Julie R. Korenberg, Hiroko Kawashima, Stefan M. Pulst et al. · PubMed · 1990 · 244 citations

Characterization of the Supernumerary Chromosome in Cat Eye Syndrome

Heather E. McDermid, Alessandra M.V. Duncan, Klaus Brasch et al. · Science · 1986 · 160 citations

Genetic Testing, Ophthalmology, Cytogenetics +10

Hemoglobin H Disease and Mental Retardation

D. J. Weatherall, Douglas R. Higgs, C Bunch et al. · New England Journal of Medicine · 1981 · 153 citations

Genetics, Genetic Epidemiology, Disease Gene Identification +17

The impact of clonal evolution on response to imatinib mesylate (STI571) in accelerated phase CML

Michael O’Dwyer, Michael J. Mauro, Gwen Kurilik et al. · Blood · 2002 · 148 citations · Full text