Edward R.B. McCabe

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Elena Zanaria, Françoise Muscatelli, Barbara Bardoni et al. · Nature · 1994 · 860 citations

Medicine, Endocrinology, Molecular Genetics +16

Deformability-based cell classification and enrichment using inertial microfluidics

Soojung Hur, Nicole K. Henderson-MacLennan, Edward R.B. McCabe et al. · Lab on a Chip · 2011 · 572 citations

Engineering, Bioengineering, Cell Biology +16

A Dosage Sensitive Locus at Chromosome Xp21 Is Involved in Male to Female Sex Reversal

Barbara Bardoni, Elena Zanaria, Silvana Guioli et al. · Obstetrical & Gynecological Survey · 1995 · 543 citations

Life Sciences, Genetics, Molecular Genetics +13

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

Karin R. Engelhardt, Sean McGhee, Sabine Winkler et al. · Journal of Allergy and Clinical Immunology · 2009 · 525 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.

Jeffrey A. Towbin, J. Fielding Hejtmancik, Paul A. Brink et al. · Circulation · 1993 · 515 citations · Full text

Medicine, Genetics, Molecular Genetics +15