Stephanie Austin

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Priya S. Kishnani, Stephanie Austin, José E. Abdenur et al. · Genetics in Medicine · 2014 · 495 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Glycogen Storage Disease Type III diagnosis and management guidelines

Priya S. Kishnani, Stephanie Austin, Pamela Arn et al. · Genetics in Medicine · 2010 · 305 citations · Full text

Medicine, Biochemistry, Internal Medicine +12

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang et al. · The American Journal of Human Genetics · 2021 · 239 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway

R. Surtees, J. Leonard, Stephanie Austin · The Lancet · 1991 · 234 citations

Life Sciences, Neurology, Neuroscience +15

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Priya S. Kishnani, Jennifer Goldstein, Stephanie Austin et al. · Genetics in Medicine · 2019 · 138 citations · Full text

Medicine, Genetics, Molecular Genetics +17