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 · 476 citations · Full text

Practice Guideline, Mendelian Disorder, Medicine +9

Glycogen Storage Disease Type III diagnosis and management guidelines

Priya S. Kishnani, Stephanie Austin, Pamela Arn et al. · Genetics in Medicine · 2010 · 299 citations · Full text

Management Guidelines, Clinical Finding, Diagnostic Test +4

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

Cerebrospinal-fluid S-adenosylmethionine, Inborn Errors, Neurological Disorder +11

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 · 227 citations · Full text

Long-read Sequencing, Long-read Sequencing Identifies, Next-generation Sequencing +4

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 · 133 citations · Full text