Susan A. Berry

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Jerry Vockley, Hans C. Andersson, Kevin M. Antshel et al. · Genetics in Medicine · 2014 · 722 citations · Full text

Medicine, Endocrinology, Pediatrics +9

Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders

Gregory M. Enns, Susan A. Berry, Gerard T. Berry et al. · New England Journal of Medicine · 2007 · 355 citations · Full text

Life Sciences, Pharmacotherapy, Renal Pharmacotherapy +3

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets

Isaiah D. Wexler, S. Hemalatha, J. McConnell et al. · Neurology · 1997 · 269 citations

Life Sciences, Genetics, Pediatrics +16

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Daniela del Gaudio, Ping Fang, Fernando Scaglia et al. · Genetics in Medicine · 2006 · 269 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Klippel-Trenaunay syndrome

Susan A. Berry, Carrie Y. Peterson, William A. Mize et al. · American Journal of Medical Genetics · 1998 · 236 citations

Medicine, Surgery, Dermatopathology +16