John M. Opitz

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Darío G. Lupiáñez, Katerina Kraft, Verena Heinrich et al. · Cell · 2015 · 2.3K citations · Full text

Life Sciences, Genetics, Molecular Biology +12

International nosology of heritable disorders of connective tissue, Berlin, 1986

Peter Beighton, A. De Paepe, D. M. Danks et al. · American Journal of Medical Genetics · 1988 · 733 citations

Medicine, Genetics, Genodermatoses +13

A newly recognized syndromeof multiple congenital anomalies

David W. Smith, Luc Lemli, John M. Opitz · The Journal of Pediatrics · 1964 · 662 citations

Medicine, Obstetrics, Pediatrics +9

Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

Joan H.M. Knoll, Robert D. Nicholls, R.E. Magenis et al. · American Journal of Medical Genetics · 1989 · 583 citations

Life Sciences, Genetics, Molecular Genetics +17

Diagnostic criteria for Walker‐Warburg syndrome

William B. Dobyns, Roberta A Pagon, Dawna Armstrong et al. · American Journal of Medical Genetics · 1989 · 448 citations

Medicine, Pediatrics, Ocular Disease +16