Stephanie Austin

3.2k total citations
72 papers, 2.0k citations indexed

About

Stephanie Austin is a scholar working on Rheumatology, Physiology and Genetics. According to data from OpenAlex, Stephanie Austin has authored 72 papers receiving a total of 2.0k indexed citations (citations by other indexed papers that have themselves been cited), including 59 papers in Rheumatology, 41 papers in Physiology and 16 papers in Genetics. Recurrent topics in Stephanie Austin's work include Glycogen Storage Diseases and Myoclonus (57 papers), Lysosomal Storage Disorders Research (40 papers) and Carbohydrate Chemistry and Synthesis (14 papers). Stephanie Austin is often cited by papers focused on Glycogen Storage Diseases and Myoclonus (57 papers), Lysosomal Storage Disorders Research (40 papers) and Carbohydrate Chemistry and Synthesis (14 papers). Stephanie Austin collaborates with scholars based in United States, United Kingdom and Germany. Stephanie Austin's co-authors include Priya S. Kishnani, Deeksha Bali, R. Surtees, J. Leonard, David A. Weinstein, Laura E. Case, Stephanie Burns Wechsler, Dwight D. Koeberl, Anne Boney and Wendy K. Chung and has published in prestigious journals such as The Lancet, SHILAP Revista de lepidopterología and Neurology.

In The Last Decade

Stephanie Austin

70 papers receiving 2.0k citations

Peers

Stephanie Austin
Julian Raiman Canada
Carolina Fischinger Moura de Souza Brazil
Carmelo Rodolico Italy
Juan Politei Argentina
Tarekegn Geberhiwot United Kingdom
Christopher Lindberg Sweden
Nicole Muschol Germany
J. E. Wraith United Kingdom
David Kronn United States
Maryam Banikazemi United States
Julian Raiman Canada
Stephanie Austin
Citations per year, relative to Stephanie Austin Stephanie Austin (= 1×) peers Julian Raiman

Countries citing papers authored by Stephanie Austin

Since Specialization
Citations

This map shows the geographic impact of Stephanie Austin's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Stephanie Austin with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Stephanie Austin more than expected).

Fields of papers citing papers by Stephanie Austin

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Stephanie Austin. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Stephanie Austin. The network helps show where Stephanie Austin may publish in the future.

Co-authorship network of co-authors of Stephanie Austin

This figure shows the co-authorship network connecting the top 25 collaborators of Stephanie Austin. A scholar is included among the top collaborators of Stephanie Austin based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Stephanie Austin. Stephanie Austin is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Soler‐Alfonso, Claudia, Ariana L. Smith, Deeksha Bali, et al.. (2023). Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Molecular Genetics and Metabolism. 138(3). 107525–107525. 21 indexed citations
2.
Koch, Rebecca E., Claudia Soler‐Alfonso, Bridget Kiely, et al.. (2023). O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*. SHILAP Revista de lepidopterología. 1(1). 100114–100114. 1 indexed citations
3.
El‐Gharbawy, Areeg, et al.. (2022). Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?. Molecular Genetics and Metabolism Reports. 31. 100856–100856. 5 indexed citations
4.
Vernuccio, Federica, Stephanie Austin, Mathias Meyer, et al.. (2021). "Bull’s eye” appearance of hepatocellular adenomas in patients with glycogen storage disease type I — atypical magnetic resonance imaging findings: Two case reports. World Journal of Clinical Cases. 9(4). 871–877. 3 indexed citations
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Young, Sarah P., et al.. (2020). Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III. JIMD Reports. 58(1). 37–43. 9 indexed citations
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Spiridigliozzi, Gail A., et al.. (2020). Behavioral, social and school functioning in children with Pompe disease. Molecular Genetics and Metabolism Reports. 25. 100635–100635. 5 indexed citations
9.
Young, Sarah P., Stephanie Austin, Deeksha Bali, et al.. (2019). Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. Genetics in Medicine. 21(12). 2686–2694. 29 indexed citations
10.
Kishnani, Priya S., Jennifer Goldstein, Stephanie Austin, et al.. (2019). 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). Genetics in Medicine. 21(4). 772–789. 86 indexed citations
11.
Yi, Haiqing, Tao Sun, Dustin Armstrong, et al.. (2017). Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease. Journal of Molecular Medicine. 95(5). 513–521. 24 indexed citations
12.
Lévesque, Sébastien, Christiane Auray‐Blais, Michel Boutin, et al.. (2016). Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet Journal of Rare Diseases. 11(1). 8–8. 43 indexed citations
13.
Kansagra, Sujay, Stephanie Austin, Stephanie DeArmey, Priya S. Kishnani, & Richard M. Kravitz. (2013). Polysomnographic findings in infantile Pompe disease. American Journal of Medical Genetics Part A. 161(12). 3196–3200. 19 indexed citations
14.
Bali, Deeksha, Jennifer Goldstein, Catherine Rehder, et al.. (2013). Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Molecular Genetics and Metabolism. 111(3). 309–313. 41 indexed citations
15.
Horvath, Jeffrey J., Stephanie Austin, Harrison N. Jones, et al.. (2012). Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa. Molecular Genetics and Metabolism. 107(3). 496–500. 8 indexed citations
16.
Austin, Stephanie, et al.. (2012). Cardiac Pathology in Glycogen Storage Disease Type III. JIMD Reports. 6. 65–72. 36 indexed citations
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Hobson‐Webb, Lisa D., Stephanie Austin, Deeksha Bali, & Priya S. Kishnani. (2010). The electrodiagnostic characteristics of Glycogen Storage Disease Type III. Genetics in Medicine. 12(7). 440–445. 25 indexed citations
19.
Kishnani, Priya S., Stephanie Austin, Pamela Arn, et al.. (2010). Glycogen Storage Disease Type III diagnosis and management guidelines. Genetics in Medicine. 12(7). 446–463. 197 indexed citations
20.
Surtees, R., J. Leonard, & Stephanie Austin. (1991). Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway. The Lancet. 338(8782-8783). 1550–1554. 185 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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