Stephanie Austin

3.2k citations

72 papers · 2.0k indexed · h-index 25

Rheumatology top 0.5%
- Glycogen Storage Diseases and Myoclonus 57
Clinical Biochemistry top 2%
- Metabolism and Genetic Disorders 4
Physiology top 5%
- Lysosomal Storage Disorders Research 40
Pharmacy top 2%
Genetics top 5%
- Genetics and Neurodevelopmental Disorders 14
Organic Chemistry
- Carbohydrate Chemistry and Synthesis 14
Psychiatry and Mental health
- Child Nutrition and Feeding Issues 9
Molecular Biology
- Biochemical and Molecular Research 8
Neurology
- Parkinson's Disease Mechanisms and Treatments 5

Co-authors: Priya S. Kishnani Deeksha Bali R. Surtees J. Leonard David A. Weinstein Laura E. Case Stephanie Burns Wechsler Dwight D. Koeberl
Cited by: Rheumatology Clinical Biochemistry Physiology
Journals: Molecular Genetics and Metabolism (21 papers)Genetics in Medicine (8 papers)Muscle & Nerve (2 papers)
Partner nations: United States United Kingdom Germany

In The Last Decade

Stephanie Austin

70 papers receiving 2.0k citations

Peers

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

The 25 scholars most cited alongside Stephanie Austin, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Stephanie Austin Line = papers co-authored together Stephanie Austin links everyone, so they are left out of the graph.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work
1	Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource Molecular Genetics and Metabolism ·П О Мухарский,Claudia Soler‐Alfonso,Christine Libor,Tamara Levitz Convenor,Ariana L. Smith,Deeksha Bali,Peter B. Kang,Andrew P. Landstrom,Hasan O. Akman,T. Burrow,Jennifer Orthmann‐Murphy,Елена Петровна Шевелева,Surekha Pendyal,Areeg El‐Gharbawy,Stephanie Austin,Laura E. Case,Raphael Schiffmann,Michio Hirano,Priya S. Kishnani	2023	21
2	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 ·Rebecca E. Koch,Claudia Soler‐Alfonso,Bridget Kiely,Tamara Levitz Convenor,Ariana L. Smith,Deeksha Bali,Peter B. Kang,Andrew P. Landstrom,Joseph Habanbo,T. Burrow,Jennifer Orthmann‐Murphy,Qi-Xun Fan,Surekha Pendyal,Areeg El‐Gharbawy,Stephanie Austin,Laura E. Case,Raphael Schiffmann,Michio Hirano,Priya S. Kishnani	2023	1
3	Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases? Molecular Genetics and Metabolism Reports ·Areeg El‐Gharbawy,Adviye Ayper Tolun,LI Jiang-ning,Stephanie Austin,Priya S. Kishnani,Deeksha Bali	2022	5
4	"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 ·Federica Vernuccio,Stephanie Austin,Mathias Meyer,Cynthia D. Guy,Priya S. Kishnani,Daniele Marin	2021	3
5	Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature Molecular Genetics and Metabolism ·Chun-yu Luan,احمد ابریشم چی,Syed Faaiz Enam,Khumoyun Olimjonov,Thomas Byrne,Michael Bowling,Stephanie Austin,Laura E. Case,Priya S. Kishnani	2021	6
6	Diurnal variability of glucose tetrasaccharide (Glc₄) excretion in patients with glycogen storage disease type III JIMD Reports ·Sarah P. Young,احمد ابریشم چی,Paul Scheerer,Mujahidah Fitria,Thomas Byrne,Stephanie Austin,Priya S. Kishnani	2020	9
7	Quantitative whole‐body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease JIMD Reports ·L.R. MacLellan,احمد ابریشم چی,Khumoyun Olimjonov,Michael Bowling,Stephanie Austin,政文關,Laura E. Case,Priya S. Kishnani	2020	5
8	Behavioral, social and school functioning in children with Pompe disease Molecular Genetics and Metabolism Reports ·後藤修一,Gail A. Spiridigliozzi,政文關,Stephanie Austin,Priya S. Kishnani	2020	5
9	Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring Genetics in Medicine ·LI Jiang-ning,Sarah P. Young,Stephanie Austin,Paul Scheerer,Deeksha Bali,Lani Clinton,Brian P. Smith,Surekha Pendyal,А. В. Винюков,Gary R. Schooler,MQ Salzano,Priya S. Kishnani	2019	29
10	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 ·Priya S. Kishnani,Jennifer Goldstein,Stephanie Austin,Pamela Arn,Bert Bachrach,Deeksha Bali,Wendy K. Chung,Areeg El‐Gharbawy,Laurie M. Brown,Stephen G. Kahler,Surekha Pendyal,Stimmlage -Das Minetti Quartett Im Gespräch,Olha Lehka-Paul,David A. Weinstein,Michael S. Watson	2019	86
11	Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease Journal of Molecular Medicine ·Haiqing Yi,Tao Sun,Dustin Armstrong,A. Taylor,Chunyu Yang,Stephanie Austin,Priya S. Kishnani,Baodong Sun	2017	24
12	Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing Orphanet Journal of Rare Diseases ·Sébastien Lévesque,Christiane Auray‐Blais,琢磨小林,Michel Boutin,Huang Hua-feng,Pierre‐Étienne Jacques,Sébastien Chénier,Sandrine Larue,Marie‐France Rioux,Walla Al‐Hertani,Amélie Nadeau,Jean Mathieu,Bruno Maranda,Valérie Désilets,Paula J. Waters,Joan Keutzer,Stephanie Austin,Priya S. Kishnani	2016	43
13	Polysomnographic findings in infantile Pompe disease American Journal of Medical Genetics Part A ·Sujay Kansagra,Stephanie Austin,Stephanie DeArmey,Priya S. Kishnani,Richard M. Kravitz	2013	19
14	Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene Molecular Genetics and Metabolism ·Deeksha Bali,Jennifer Goldstein,Manuel I. Mata-Escobedo,Catherine Rehder,Anne Boney,Stephanie Austin,David A. Weinstein,Richard E. Lutz,Avihu Boneh,Priya S. Kishnani	2013	41
15	Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa Molecular Genetics and Metabolism ·Jeffrey J. Horvath,Stephanie Austin,Harrison N. Jones,Felicity Caryer,Laura E. Case,Brian J. Soher,Mustafa R. Bashir,Priya S. Kishnani	2012	8
16	Cardiac Pathology in Glycogen Storage Disease Type III JIMD Reports ·Stephanie Austin,Alan D. Proia,A. Protze,Jagdish Butany,Stephanie Burns Wechsler,Priya S. Kishnani	2012	36
17	Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III Genetics in Medicine ·Jennifer Goldstein,Stephanie Austin,Agnieszka Tomasik,K. Goulianos,Satya Samhita Balanagu,Catherine Rehder,Priya S. Kishnani,Deeksha Bali	2010	35
18	The electrodiagnostic characteristics of Glycogen Storage Disease Type III Genetics in Medicine ·Lisa D. Hobson‐Webb,Stephanie Austin,Deeksha Bali,Priya S. Kishnani	2010	25
19	Glycogen Storage Disease Type III diagnosis and management guidelines Genetics in Medicine ·Priya S. Kishnani,Stephanie Austin,Pamela Arn,Deeksha Bali,Anne Boney,Laura E. Case,Wendy K. Chung,Dev M. Desai,Areeg El‐Gharbawy,Ronald G. Haller,Gerrit Smit,Alastair D. Smith,Lisa D. Hobson‐Webb,Stephanie Burns Wechsler,David A. Weinstein,Michael S. Watson	2010	197
20	Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway The Lancet ·R. Surtees,J. Leonard,Stephanie Austin	1991	185

About Stephanie Austin

Stephanie Austin is a scholar working on Rheumatology, Physiology and Neurology, having authored 72 papers that have together received 2.0k indexed citations. Recurring topics across this work include Glycogen Storage Diseases and Myoclonus (57 papers), Lysosomal Storage Disorders Research (40 papers), Carbohydrate Chemistry and Synthesis (14 papers), Genetics and Neurodevelopmental Disorders (14 papers), Child Nutrition and Feeding Issues (9 papers), Biochemical and Molecular Research (8 papers), Parkinson's Disease Mechanisms and Treatments (5 papers) and Metabolism and Genetic Disorders (4 papers). The work is most often cited by research in Rheumatology (1.4k citations), Clinical Biochemistry (258 citations) and Physiology (776 citations). Stephanie Austin has collaborated with scholars based in United States, United Kingdom and Germany. Frequent 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. Their work appears in journals such as Molecular Genetics and Metabolism, Genetics in Medicine, Muscle & Nerve, Journal of Inherited Metabolic Disease and Acta Neuropathologica Communications.

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.

Explore authors with similar magnitude of impact