Cheryl R. Greenberg

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Gisèle Bonne, Marina Raffaele di Barletta, Shaïda Varnous et al. · Nature Genetics · 1999 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +7

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

Michael L. Nickerson, Michelle B. Warren, Jorge R. Toro et al. · Cancer Cell · 2002 · 937 citations · Full text

Medicine, Genetics, Nephrology +17

Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Charles A. Stanley, Yen K. Lieu, Betty Y.L. Hsu et al. · New England Journal of Medicine · 1998 · 672 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

Michael P. Whyte, Cheryl R. Greenberg, Nada Salman et al. · New England Journal of Medicine · 2012 · 566 citations · Full text

Medicine, Pediatrics, Pharmacotherapy +17

Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome.

Berton Zbar, W. Gregory Alvord, G.M. Glenn et al. · PubMed · 2002 · 518 citations

Medicine, Nephrology, Oncology +17