Barbara K. Burton

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Jerry Vockley, Hans C. Andersson, Kevin M. Antshel et al. · Genetics in Medicine · 2014 · 692 citations · Full text

Medicine, Clinical Nutrition, Pathology +4

Mutation in <i>BAG3</i> causes severe dominant childhood muscular dystrophy

Duygu Selcen, Francesco Muntoni, Barbara K. Burton et al. · Annals of Neurology · 2008 · 359 citations · Full text

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 339 citations · Full text

Genetic Landscape, Genetic Disorder, Medicine +6

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A. Simpson, Melita Irving, Esra Asilmaz et al. · Nature Genetics · 2011 · 306 citations

Progressive Bone Loss, Craniofacial Disorder, Genetic Disorder +4